Mercurial > repos > bzeitouni > svdetect
changeset 17:f3202b943f88 draft
Deleted selected files
| author | bzeitouni |
|---|---|
| date | Thu, 12 Jul 2012 12:05:09 -0400 |
| parents | fc601c7fa886 |
| children | e2a28ab2af2e |
| files | SVDetect_toolshed_version.zip svdetect/BAM_preprocessingPairs.pl svdetect/BAM_preprocessingPairs.xml svdetect/SVDetect_compare.pl svdetect/SVDetect_compare.xml svdetect/SVDetect_import.sh svdetect/SVDetect_import.xml svdetect/SVDetect_run_parallel.pl svdetect/SVDetect_run_parallel.xml svdetect/SVDetect_toolshed_version.zip |
| diffstat | 10 files changed, 0 insertions(+), 5312 deletions(-) [+] |
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--- a/svdetect/BAM_preprocessingPairs.pl Thu Jul 12 12:03:16 2012 -0400 +++ /dev/null Thu Jan 01 00:00:00 1970 +0000 @@ -1,340 +0,0 @@ -#!/usr/bin/perl -w - -use strict; -use warnings; -use Getopt::Std; -my $version = '0.4b_galaxy'; - -my $SAMTOOLS_BIN_DIR="/bioinfo/local/samtools"; - -my %opts = ( t=>1, p=>1, n=>1000000, f=>3, s=>0, S=>10000, o=>"." ); - -getopts('dt:p:n:f:s:S:o:b:l:x:N:', \%opts); #GALAXY - -my $working_dir=($opts{o} ne ".")? $opts{o}:"working directory"; - -my $pt_bad_mates_file=$opts{b}; #GALAXY -my $pt_log_file=$opts{l}; #GALAXY -my $pt_good_mates_file=$opts{x} if($opts{d}); #GALAXY - - -die(qq/ - -Description: - - Preprocessing of mates to get anomalously mapped mate-pair\/paired-end reads as input - for SVDetect. - - From all pairs mapped onto the reference genome, this script outputs abnormal pairs: - - mapped on two different chromosomes - - with an incorrect strand orientation and\/or pair order - - with an insert size distance +- sigma threshold - into a file <prefix.ab.bam\/sam> sorted by read names - - -BAM\/SAM File input format only. - - Version : $version - SAMtools required for BAM files - - -Usage: BAM_preprocessingPairs.pl [options] <all_mate_file.sorted.bam\/sam> - -Options: -t BOOLEAN read type: =1 (Illumina), =0 (SOLiD) [$opts{t}] - -p BOOLEAN pair type: =1 (paired-end), =0 (mate-pair) [$opts{p}] - -n INTEGER number of pairs for calculating mu and sigma lengths [$opts{n}] - -s INTEGER minimum value of ISIZE for calculating mu and sigma lengths [$opts{s}] - -S INTEGER maximum value of ISIZE for calculating mu and sigma lengths [$opts{S}] - -f REAL minimal number of sigma fold for filtering pairs [$opts{f}] - -d dump normal pairs into a file [<prefix.norm.bam\/sam>] (optional) - -o STRING output directory [$working_dir] - -\n/) if (@ARGV == 0 && -t STDIN); - -unless (-d $opts{o}){ - mkdir $opts{o} or die; -} -$opts{o}.="/" if($opts{o}!~/\/$/); - -my $mates_file=shift(@ARGV); - -$mates_file=readlink($mates_file); - -my $bad_mates_file=(split(/\//,$mates_file))[$#_]; - -if($bad_mates_file=~/.(s|b)am$/){ - $bad_mates_file=~s/.(b|s)am$/.ab.sam/; - $bad_mates_file=$opts{o}.$bad_mates_file; -} - -else{ - die "Error: mate_file with the extension <.bam> or <.sam> needed !\n"; -} - -my $good_mates_file; -if($opts{d}){ - $good_mates_file=(split(/\//,$mates_file))[$#_]; - $good_mates_file=~s/.(b|s)am$/.norm.sam/; - $good_mates_file=$opts{o}.$good_mates_file; -} - -my $log_file=$opts{o}.$opts{N}.".svdetect_preprocessing.log"; #GALAXY - -#------------------------------------------------------------------------------# -#Calculate mu and sigma - -open LOG,">$log_file" or die "$0: can't open ".$log_file.":$!\n"; - -print LOG "\# Calculating mu and sigma lengths...\n"; -print LOG "-- file=$mates_file\n"; -print LOG "-- n=$opts{n}\n"; -print LOG "-- ISIZE min=$opts{s}, max=$opts{S}\n"; - -my ($record, $sumX,$sumX2) = (0,0,0); -my $warn=$opts{n}/10; -my $prev_pair="FIRST"; - -my $bam=($mates_file =~ /.bam$/)? 1:0; - -if($bam){ - open(MATES, "${SAMTOOLS_BIN_DIR}/samtools view $mates_file |") or die "$0: can't open ".$mates_file.":$!\n"; -}else{ - open MATES, "<".$mates_file or die "$0: can't open ".$mates_file.":$!\n"; -} - -while(<MATES>){ - - my @t=split; - - next if ($t[0]=~/^@/); - - my $current_pair=$t[0]; - next if($current_pair eq $prev_pair); - $prev_pair=$current_pair; - - my ($chr1,$chr2,$length)=($t[2],$t[6],abs($t[8])); - - next if ($chr1 eq "*" || $chr2 eq "*"); - next if ($length<$opts{s} || $length>$opts{S}) ; - - if($chr2 eq "="){ - - $sumX += $length; #add to sum and sum^2 for mean and variance calculation - $sumX2 += $length*$length; - $record++; - } - - if($record>$warn){ - print LOG "-- $warn pairs analysed\n"; - $warn+=$warn; - } - - last if ($record>$opts{n}); - -} -close (MATES); - -$record--; -my $mu = $sumX/$record; -my $sigma = sqrt($sumX2/$record - $mu*$mu); - -print LOG "-- Total : $record pairs analysed\n"; -print LOG "-- mu length = ".decimal($mu,1).", sigma length = ".decimal($sigma,1)."\n"; - -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#Preprocessing pairs - -$warn=100000; - -$record=0; -my %count=( ab=>0, norm=>0, chr=>0, sense=>0, dist=>0, unmap=>0); - -my $read_type=($opts{t})? "Illumina":"SOLiD"; -my $pair_type=($opts{p})? "paired-end":"mate-paired"; - -print LOG "\# Preprocessing pairs...\n"; -print LOG "-- file= $mates_file\n"; -print LOG "-- type= $read_type $pair_type reads\n"; -print LOG "-- sigma threshold= $opts{f}\n"; -print LOG "-- using ".decimal($mu-$opts{f}*$sigma,4)."-".decimal($mu+$opts{f}*$sigma,4)." as normal range of insert size\n"; - -my @header; - -if($bam){ - open(HEADER, "${SAMTOOLS_BIN_DIR}/samtools view -H $mates_file |") or die "$0: can't open ".$mates_file.":$!\n"; - @header=<HEADER>; - close HEADER; - open(MATES, "${SAMTOOLS_BIN_DIR}/samtools view $mates_file |") or die "$0: can't open ".$mates_file.":$!\n"; -}else{ - open MATES, "<".$mates_file or die "$0: can't open ".$mates_file.":$!\n"; -} - -open AB, ">$bad_mates_file" or die "$0: can't write in the output: $bad_mates_file :$!\n"; -print AB @header if($bam); - -if($opts{d}){ - open NORM, ">$good_mates_file" or die "$0: can't write in the output: $good_mates_file :$!\n"; - print NORM @header if($bam); -} - -$prev_pair="FIRST"; -my $prev_bad; - -while(<MATES>){ - - my @t=split; - my $bad=0; - - if ($t[0]=~/^@/){ - print AB; - print NORM if ($opts{d}); - next; - } - - my $current_pair=$t[0]; - if($current_pair eq $prev_pair){ - next if($prev_bad==-1); - if($prev_bad){ - print AB; - }elsif(!$prev_bad){ - print NORM if($opts{d}); - } - next; - } - - $prev_pair=$current_pair; - - my ($chr1,$chr2,$pos1,$pos2,$length)=($t[2],$t[6],$t[3],$t[7], abs($t[8])); - - if ($chr1 eq "*" || $chr2 eq "*"){ - $prev_bad=-1; - $count{unmap}++; - $record++; - next; - - } - - my $strand1 = (($t[1]&0x0010))? 'R':'F'; - my $strand2 = (($t[1]&0x0020))? 'R':'F'; - my $order1 = (($t[1]&0x0040))? '1':'2'; - my $order2 = (($t[1]&0x0080))? '1':'2'; - - if($order1 == 2){ - ($strand1,$strand2)=($strand2,$strand1); - ($chr1,$chr2)=($chr2,$chr1); - ($pos1,$pos2)=($pos2,$pos1); - ($order1,$order2)=($order2,$order1); - } - - my $sense=$strand1.$strand2; - - if($chr1 ne "=" && $chr2 ne "="){ - $bad=1; - $count{chr}++; - } - - if($opts{p}){ #paired-end - if(!(($sense eq "FR" && $pos1<$pos2) || ($sense eq "RF" && $pos2<$pos1))){ - $bad=1; - $count{sense}++; - } - }else{ #mate-pair - if($opts{t}){ #Illumina - if(!(($sense eq "FR" && $pos2<$pos1) || ($sense eq "RF" && $pos1<$pos2))){ - $bad=1; - $count{sense}++; - } - }else{ #SOLiD - if(!(($sense eq "FF" && $pos2<$pos1) || ($sense eq "RR" && $pos1<$pos2))){ - $bad=1; - $count{sense}++; - } - } - } - - if(($chr1 eq "=" || $chr2 eq "=") && ($length <$mu - $opts{f}*$sigma || $length>$mu + $opts{f}*$sigma)){ - $bad=1; - $count{dist}++; - } - - if($bad){ - print AB; - $count{ab}++; - $prev_bad=$bad; - }else{ - print NORM if ($opts{d}); - $count{norm}++; - $prev_bad=$bad; - } - - $record++; - - if($record>$warn){ - print LOG "-- $warn pairs analysed\n"; - $warn+=100000; - } -} - -close AB; -close NORM if($opts{d}); - -print LOG "-- Total : $record pairs analysed\n"; -print LOG "-- $count{unmap} pairs whose one or both reads are unmapped\n"; -print LOG "-- ".($count{ab}+$count{norm})." mapped pairs\n"; -print LOG "---- $count{ab} abnormal mapped pairs\n"; -print LOG "------ $count{chr} pairs mapped on two different chromosomes\n"; -print LOG "------ $count{sense} pairs with incorrect strand orientation and\/or pair order\n"; -print LOG "------ $count{dist} pairs with incorrect insert size distance\n"; -print LOG "--- $count{norm} correct mapped pairs\n"; - -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#OUTPUT - -if($bam){ - - my $bam_file=$bad_mates_file; - $bam_file=~s/.sam$/.bam/; - print LOG "\# Converting sam to bam for abnormal mapped pairs\n"; - system("${SAMTOOLS_BIN_DIR}/samtools view -bS $bad_mates_file > $bam_file 2>".$opts{o}."samtools.log"); - unlink($bad_mates_file); - print LOG "-- output created: $bam_file\n"; - - system "rm $pt_bad_mates_file ; ln -s $bam_file $pt_bad_mates_file"; #GALAXY - - if($opts{d}){ - $bam_file=$good_mates_file; - $bam_file=~s/.sam$/.bam/; - print LOG "\# Converting sam to bam for correct mapped pairs\n"; - system("${SAMTOOLS_BIN_DIR}/samtools view -bS $good_mates_file > $bam_file 2>".$opts{o}."samtools.log"); - unlink($good_mates_file); - print LOG "-- output created: $bam_file\n"; - - system "rm $pt_good_mates_file ; ln -s $bam_file $pt_good_mates_file"; #GALAXY - - } - -} - -else{ - print LOG "-- output created: $bad_mates_file\n"; - print LOG "-- output created: $good_mates_file\n" if($opts{d}); -} - -close LOG; - -system "rm $pt_log_file ; ln -s $log_file $pt_log_file"; #GALAXY - - -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub decimal{ - - my $num=shift; - my $digs_to_cut=shift; - - $num=sprintf("%.".($digs_to_cut-1)."f", $num) if ($num=~/\d+\.(\d){$digs_to_cut,}/); - - return $num; -} -#------------------------------------------------------------------------------#
--- a/svdetect/BAM_preprocessingPairs.xml Thu Jul 12 12:03:16 2012 -0400 +++ /dev/null Thu Jan 01 00:00:00 1970 +0000 @@ -1,77 +0,0 @@ -<tool id="svdetect_preprocessing" name="BAM preprocessing"> - - <description>to get abnormal pairs</description> - - <command interpreter="perl"> BAM_preprocessingPairs.pl -t '$readType' -p '$pairType' -n '$nbrePair' -s '$isizeMin' -S '$isizeMax' -f '$foldPair' -o $__new_file_path__/svdetect -b '$abBAM' -l '$log' -N $sample_name - #if $newBam.pairNormal=="yes" - -d -x '$normBAM' - #end if - '$inputBam' - </command> - - <inputs> - <param name="sample_name" type="text" value="sample" label="Sample Name"/> - <param name="inputBam" type="data" format="bam" label="BAM input file"/> - <param name="readType" type="select" label="Read type"> - <option value="1">Illumina</option> - <option value="0">SOLiD</option> - </param> - <param name="pairType" type="select" label="Library type"> - <option value="1">Paired-end</option> - <option value="0">Mate-Pair</option> - </param> - <conditional name="newBam"> - <param name="pairNormal" type="select" label="Do you want an additional bam file listing concordant mapped pairs?" help="Dump normal pairs into a file sample_name.norm.bam/sam"> - <option value="no">No</option> - <option value="yes">Yes</option> - </param> - <when value="yes"> - <!-- do nothing here --> - </when> - <when value="no"> - <!-- do nothing here --> - </when> - </conditional> - <param name="nbrePair" value="1000000" type="integer" size="30" label="Number of pairs for calculating mu (µ) and sigma (σ) lengths"/> - <param name="isizeMin" value="0" type="integer" size="30" label="Minimum value of ISIZE for calculating mu (µ) and sigma (σ) lengths"/> - <param name="isizeMax" value="10000" type="integer" size="30" label="Maximum value of ISIZE for calculating mu (µ)and sigma( σ) lengths"/> - <param name="foldPair" value="3" type="float" size="30" label="Minimal number of sigma (σ) fold for filtering pairs"/> - </inputs> - - <outputs> - <data format="bam" name="abBAM" label="${$sample_name}.ab.bam"/> - <data format="txt" name="log" label="${$sample_name}.svdetect_preprocessing.log"/> - <data format="bam" name="normBAM" label="${$sample_name}.norm.bam"> - <filter>newBam['pairNormal'] == 'yes'</filter> - </data> - </outputs> - - <help> - -**What it does** - -Bam_preprocessingPairs - Version 0.4b - -Preprocessing of mates to get anomalously mapped mate-pair/paired-end reads as input for SVDetect. - -From all pairs mapped onto the reference genome, this script outputs abnormal pairs: - - * mapped on two different chromosomes - * with an incorrect strand orientation and/or pair order - * with an insert size distance +- sigma threshold - -into a file prefix.ab.bam/sam sorted by read names - --BAM/SAM File input format only. - -SAMtools required for BAM files - ------ - -.. class:: infomark - -Contact Bruno Zeitouni (bruno.zeitouni@curie.fr) for any questions or concerns about the Galaxy implementation of SVDetect. - - </help> - -</tool>
--- a/svdetect/SVDetect_compare.pl Thu Jul 12 12:03:16 2012 -0400 +++ /dev/null Thu Jan 01 00:00:00 1970 +0000 @@ -1,716 +0,0 @@ -#!/usr/bin/perl -w - -=pod - -=head1 NAME - -SVDetect Compare for Galaxy - -Version: 0.8 for Galaxy - -=head1 SYNOPSIS - -SVDetect_compare.pl links2compare -conf <configuration_file> [-help] [-man] - -=cut - -# ------------------------------------------------------------------- - -use strict; -use warnings; - -use Pod::Usage; -use Getopt::Long; - -use Config::General; -use Tie::IxHash; - -#::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::# -#PARSE THE COMMAND LINE -my %OPT; -GetOptions(\%OPT, - 'conf=s', - 'out1=s', #GALAXY - 'out2=s', #GALAXY - 'out3=s', #GALAXY - 'out4=s', #GALAXY - 'out5=s', #GALAXY - 'out6=s', #GALAXY - 'out7=s', #GALAXY - 'out8=s', #GALAXY - 'out9=s', #GALAXY - 'l=s', #GALAXY - 'N=s', #GALAXY - 'help', - 'man' - ); - -pod2usage() if $OPT{help}; -pod2usage(-verbose=>2) if $OPT{man}; -pod2usage(-message=> "$!", -exitval => 2) if (!defined $OPT{conf}); - - -pod2usage() if(@ARGV<1); - -tie (my %func, 'Tie::IxHash',links2compare=>\&links2compare); - -foreach my $command (@ARGV){ - pod2usage(-message=> "Unknown command \"$command\"", -exitval => 2) if (!defined($func{$command})); -} -#::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::# - -#::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::# -#READ THE CONFIGURATION FILE -my $conf=Config::General->new( -ConfigFile => $OPT{conf}, - -Tie => "Tie::IxHash", - -AllowMultiOptions => 1, - -LowerCaseNames => 1, - -AutoTrue => 1); -my %CONF= $conf->getall; -validateconfiguration(\%CONF); #validation of the configuration parameters - - -my $SAMTOOLS_BIN_DIR="/bioinfo/local/samtools"; #GALAXY -my $BEDTOOLS_BIN_DIR="/bioinfo/local/BEDTools/bin"; #GALAXY - -my $pt_log_file=$OPT{l}; #GALAXY -my $log_file=$CONF{general}{output_dir}.$OPT{N}.".svdetect_compare.log"; #GALAXY -open LOG,">$log_file" or die "$0: can't open ".$log_file.":$!\n";#GALAXY - -my @pt_sv_file=($OPT{out1},$OPT{out2},$OPT{out3}) if($OPT{out1}); #GALAXY common,sample,reference -my @pt_circos_file=($OPT{out4},$OPT{out5},$OPT{out6}) if($OPT{out4}); #GALAXY common,sample,reference -my @pt_bed_file=($OPT{out7},$OPT{out8},$OPT{out9}) if($OPT{out7}); #GALAXY common,sample,reference - -$CONF{compare}{sample_link_file}=readlink($CONF{compare}{sample_link_file});#GALAXY -$CONF{compare}{sample_link_file}=~s/.sv.txt//; #GALAXY - -$CONF{compare}{reference_link_file}=readlink($CONF{compare}{reference_link_file});#GALAXY -$CONF{compare}{reference_link_file}=~s/.sv.txt//; #GALAXY - -#::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::# - -#::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::# -#COMMAND EXECUTION -foreach my $command (@ARGV){ - &{$func{$command}}(); -} -print LOG "-- end\n"; - -close LOG;#GALAXY -system "rm $pt_log_file ; ln -s $log_file $pt_log_file"; #GALAXY - -exit(0); -#::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::# - -#::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::# -#FUNCTIONS - -# -----------------------------------------------------------------------------# -#MAIN FUNCTION number 5:Comparison between samples, common or specific links -sub links2compare{ - - my @compare_files; - - compareSamples($CONF{general}{output_dir}, - $CONF{compare}{list_samples}, - $CONF{compare}{sample_link_file}, - $CONF{compare}{reference_link_file}, - $CONF{compare}{min_overlap}, - $CONF{compare}{same_sv_type}, - \@compare_files); - - my $pt_ind=0; - - for my $input_file (@compare_files){ - - $input_file=$CONF{general}{output_dir}.$input_file; - - my $output_file=$input_file; - $output_file=~s/unique$/compared/; - - sortLinks($input_file, $output_file,1); - - if($CONF{compare}{circos_output}){ - links2segdup($CONF{circos}{organism_id}, - $CONF{circos}{colorcode}, - $output_file, - $output_file.".segdup.txt"); - system "rm $pt_circos_file[$pt_ind]; ln -s $output_file.segdup.txt $pt_circos_file[$pt_ind]" if (defined $pt_circos_file[$pt_ind]); #GALAXY - } - - if($CONF{compare}{bed_output}){ - links2bedfile($CONF{compare}{read_lengths}, - $CONF{bed}{colorcode}, - $output_file, - $output_file.".bed"); - system "rm $pt_bed_file[$pt_ind]; ln -s $output_file.bed $pt_bed_file[$pt_ind]" if (defined $pt_bed_file[$pt_ind]); #GALAXY - } - - if($CONF{compare}{sv_output}){ - - links2SVfile ($output_file, $output_file.".sv.txt"); - system "rm $pt_sv_file[$pt_ind]; ln -s $output_file.sv.txt $pt_sv_file[$pt_ind]" if (defined $pt_sv_file[$pt_ind]); #GALAXY - } - $pt_ind++; - - } - unlink(@compare_files); - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub compareSamples{ - - my ($dir,$list_samples,$sample_file,$reference_file,$min_overlap,$same_sv_type,$file_names)=@_; - - my @bedpefiles; - my @list=split(",",$list_samples); - my @list_files=($sample_file,$reference_file); - - print LOG "\# Comparison procedure...\n"; - print LOG "-- samples=$list_samples\n". - "-- minimum overlap=$min_overlap\n". - "-- same SV type=$same_sv_type\n"; - - #conversion of links to bedPE format file - print LOG "-- Conversion of links.filtered files to bedPE format\n"; - for my $s (0..$#list) { - - links2bedPElinksfile($list[$s],$list_files[$s],$list_files[$s].".bedpe.txt"); - push(@bedpefiles,$list_files[$s].".bedpe.txt"); - - } - - #get common links between all samples compared - print LOG "-- Getting common links between all samples with BEDTools\n"; - my $common_name=join(".",@list); - - my $nb=scalar @list; - my $command=""; - my $prompt=">"; - - while ($nb>0){ - - for my $i (0..$#list_files){ - - $command.="$BEDTOOLS_BIN_DIR/pairToPair -type both -f $min_overlap -a ".$list_files[$i].".bedpe.txt"; - my $pipe=0; - - for my $j ($i+1..$#list_files){ - - $command.="| $BEDTOOLS_BIN_DIR/pairToPair -type both -f $min_overlap -a stdin" if($pipe); - $command.=" -b ".$list_files[$j].".bedpe.txt"; - $pipe=1; - - } - - $command.=$prompt.$dir.$common_name.".bedpe.tmp;"; - $prompt=">>"; - - my $first=shift(@list_files); push(@list_files,$first); - last; - } - $nb--; - } - - system ($command); - - push(@bedpefiles,$dir.$common_name.".bedpe.tmp"); - - #Post comparison to get common links if same type only (as an option) - open( FILE, "<".$dir.$common_name.".bedpe.tmp") or die "Can't open".$dir.$common_name.".bedpe.tmp : $!"; - open( OUT, ">".$dir.$common_name.".bedpe.unique") or die "Can't write in ".$dir.$common_name.".bedpe.unique : $!"; - - while(<FILE>){ - my @t=split("\t",$_); - my $s=(split("_",$t[6]))[0]; - my ($sv1,$sv2)=($t[7],$t[18]); - splice(@t,11,$#t); - - if($same_sv_type){ - print OUT join("\t",@t)."\n" if($sv1 eq $sv2); - }else{ - print OUT join("\t",@t)."\n"; - } - } - close FILE; - close OUT; - - bedPElinks2linksfile($dir.$common_name.".bedpe.unique", $dir.$common_name.".unique"); - push(@bedpefiles,$dir.$common_name.".bedpe.unique"); - push(@$file_names,$common_name.".unique"); - print LOG "-- output created: ".$dir.$common_name.".compared\n"; - - #get specific links for each sample - print LOG "-- Getting specific links for each sample\n"; - for my $s (0..$#list) { - system("grep -Fxv -f ".$dir.$common_name.".bedpe.unique ".$list_files[$s].".bedpe.txt >".$dir.$list[$s].".bedpe.unique"); - bedPElinks2linksfile($dir.$list[$s].".bedpe.unique",$dir.$list[$s].".unique"); - push(@bedpefiles,$dir.$list[$s].".bedpe.unique"); - push(@$file_names,$list[$s].".unique"); - print LOG "-- output created: ".$dir.$list[$s].".compared\n"; - } - - unlink(@bedpefiles); - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#convert the links file to the circos format -sub links2segdup{ - - my($id,$color_code,$links_file,$segdup_file)=@_; - - print LOG "\# Converting to the circos format...\n"; - - tie (my %hcolor,'Tie::IxHash'); #color-code hash table - foreach my $col (keys %{$color_code}){ - my ($min_links,$max_links)=split(",",$color_code->{$col}); - $hcolor{$col}=[$min_links,$max_links]; - } - - open LINKS, "<$links_file" or die "$0: can't open $links_file :$!\n"; - open SEGDUP, ">$segdup_file" or die "$0: can't write in the output: $segdup_file :$!\n"; - - my $index=1; - while(<LINKS>){ - - my ($chr1,$start1,$end1,$chr2,$start2,$end2,$count)=(split)[0,1,2,3,4,5,6]; - - my $color=getColor($count,\%hcolor,"circos"); #get the color-code according the number of links - - print SEGDUP "$index\t$id$chr1\t$start1\t$end1\tcolor=$color\n". #circos output - "$index\t$id$chr2\t$start2\t$end2\tcolor=$color\n"; - $index++; - } - - close LINKS; - close SEGDUP; - print LOG "-- output created: $segdup_file\n"; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#convert the links file to the bedPE format for BEDTools usage -sub links2bedPElinksfile{ - - my ($sample,$links_file,$bedpe_file)=@_; - - open LINKS, "<$links_file" or die "$0: can't open $links_file :$!\n"; - open BEDPE, ">$bedpe_file" or die "$0: can't write in the output: $bedpe_file :$!\n"; - - my $nb_links=1; - - while(<LINKS>){ - - chomp; - my @t=split("\t",$_); - my ($chr1,$start1,$end1,$chr2,$start2,$end2)=splice(@t,0,6); - my $type=($chr1 eq $chr2)? "INTRA":"INTER"; - $type.="_".$t[10]; - - $start1--; $start2--; - - print BEDPE "$chr1\t$start1\t$end1\t$chr2\t$start2\t$end2". - "\t$sample"."_link$nb_links\t$type\t.\t.". - "\t".join("|",@t)."\n"; - - $nb_links++; - } - - close LINKS; - close BEDPE; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub bedPElinks2linksfile{ - - my ($bedpe_file,$links_file)=@_; - - open BEDPE, "<$bedpe_file" or die "$0: can't open: $bedpe_file :$!\n"; - open LINKS, ">$links_file" or die "$0: can't write in the output $links_file :$!\n"; - - while(<BEDPE>){ - - chomp; - my $sample=(split("_",(split("\t",$_))[6]))[0]; - my @t1=(split("\t",$_))[0,1,2,3,4,5]; - my @t2=split(/\|/,(split("\t",$_))[10]); - push(@t2,$sample); - - print LINKS join("\t",@t1)."\t".join("\t",@t2)."\n"; - - } - close BEDPE; - close LINKS; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#convert the links file to the bed format -sub links2bedfile{ - - my ($tag_length,$color_code,$links_file,$bed_file)=@_; - - print LOG "\# Converting to the bed format...\n"; - - my $compare=1; - if($links_file!~/compared$/){ - $compare=0; - $tag_length->{none}->{1}=$tag_length->{1}; - $tag_length->{none}->{2}=$tag_length->{2}; - } - - #color-code hash table - tie (my %hcolor,'Tie::IxHash'); - my %color_order; - $color_order{"255,255,255"}=0; - my $n=1; - foreach my $col (keys %{$color_code}){ - my ($min_links,$max_links)=split(",",$color_code->{$col}); - $hcolor{$col}=[$min_links,$max_links]; - $color_order{$col}=$n; - $n++; - } - - my %pair; - my %pt; - $n=1; - open LINKS, "<$links_file" or die "$0: can't open $links_file:$!\n"; - - my %str=( "F"=>"+", "R"=>"-" ); - - while(<LINKS>){ - - my @t=split; - my $sample=($compare)? pop(@t):"none"; - - my $chr1=$t[0]; - my $chr2=$t[3]; - $chr1 = "chr".$chr1 unless ($chr1 =~ m/chr/i); - $chr2 = "chr".$chr2 unless ($chr2 =~ m/chr/i); - my $same_chr=($chr1 eq $chr2)? 1:0; - - my $count=$t[6]; - my $color=getColor($count,\%hcolor,"bed"); - - my @pairs=deleteBadOrderSensePairs(split(",",$t[7])); - my @strand1=deleteBadOrderSensePairs(split(",",$t[8])); - my @strand2=deleteBadOrderSensePairs(split(",",$t[9])); - my @ends_order1=deleteBadOrderSensePairs(split(",",$t[10])); - my @ends_order2=deleteBadOrderSensePairs(split(",",$t[11])); - my @position1=deleteBadOrderSensePairs(split(",",$t[14])); - my @position2=deleteBadOrderSensePairs(split(",",$t[15])); - my @start1; my @end1; getCoordswithLeftMost(\@start1,\@end1,\@position1,\@strand1,\@ends_order1,$tag_length->{$sample}); - my @start2; my @end2; getCoordswithLeftMost(\@start2,\@end2,\@position2,\@strand2,\@ends_order2,$tag_length->{$sample}); - - - for my $p (0..$#pairs){ - - if (!exists $pair{$pairs[$p]}){ - - if($same_chr){ - - $pair{$pairs[$p]}->{0}=[ $chr1, $start1[$p]-1, $end2[$p], $pairs[$p], 0, $str{$strand1[$p]}, - $start1[$p]-1, $end2[$p], $color, - 2, $tag_length->{$sample}->{$ends_order1[$p]}.",".$tag_length->{$sample}->{$ends_order2[$p]}, "0,".($start2[$p]-$start1[$p]) ]; - $pt{$n}=$pair{$pairs[$p]}->{0}; - $n++; - - }else{ - - $pair{$pairs[$p]}->{1}=[ $chr1, $start1[$p]-1, $end1[$p] , $pairs[$p]."/1", 0, $str{$strand1[$p]}, - $start1[$p]-1, $end1[$p], $color, - 1, $tag_length->{$sample}->{$ends_order1[$p]}, 0]; - $pt{$n}=$pair{$pairs[$p]}->{1}; - $n++; - - - $pair{$pairs[$p]}->{2}=[ $chr2, $start2[$p]-1, $end2[$p], $pairs[$p]."/2", 0, $str{$strand2[$p]}, - $start2[$p]-1, $end2[$p], $color, - 1, $tag_length->{$sample}->{$ends_order2[$p]}, 0]; - $pt{$n}=$pair{$pairs[$p]}->{2}; - $n++; - } - }else{ - - if($same_chr){ - ${$pair{$pairs[$p]}->{0}}[8]=$color if($color_order{$color}>$color_order{${$pair{$pairs[$p]}->{0}}[8]}); - }else{ - ${$pair{$pairs[$p]}->{1}}[8]=$color if($color_order{$color}>$color_order{${$pair{$pairs[$p]}->{1}}[8]}); - ${$pair{$pairs[$p]}->{2}}[8]=$color if($color_order{$color}>$color_order{${$pair{$pairs[$p]}->{2}}[8]}); - } - } - } - } - close LINKS; - - my $nb_pairs=$n-1; - - open BED, ">$bed_file" or die "$0: can't write in the output: $bed_file :$!\n"; - print BED "track name=\"$bed_file\" description=\"mate pairs involved in links\" ". - "visibility=2 itemRgb=\"On\"\n"; - - for my $i (1..$nb_pairs){ - print BED join("\t",@{$pt{$i}})."\n"; - } - - close BED; - - print LOG "-- output created: $bed_file\n"; - - undef %pair; - undef %pt; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub links2SVfile{ - - my($links_file,$sv_file)=@_; - - print LOG "\# Converting to the sv output table...\n"; - open LINKS, "<$links_file" or die "$0: can't open $links_file:$!\n"; - open SV, ">$sv_file" or die "$0: can't write in the output: $sv_file :$!\n"; - - my @header=qw(chr_type SV_type BAL_type chromosome1 start1-end1 average_dist - chromosome2 start2-end2 nb_pairs score_strand_filtering score_order_filtering score_insert_size_filtering - final_score breakpoint1_start1-end1 breakpoint2_start2-end2); - - my $nb_links=0; - - while (<LINKS>){ - - my @t=split; - my @sv=(); - my $sv_type="-"; - my $strand_ratio="-"; - my $eq_ratio="-"; - my $eq_type="-"; - my $insert_ratio="-"; - my $link="-"; - my ($bk1, $bk2)=("-","-"); - my $score="-"; - - my ($chr1,$start1,$end1)=($t[0],$t[1],$t[2]); - my ($chr2,$start2,$end2)=($t[3],$t[4],$t[5]); - my $nb_pairs=$t[6]; - $chr1 = "chr".$chr1 unless ($chr1 =~ m/chr/i); - $chr2 = "chr".$chr2 unless ($chr2 =~ m/chr/i); - my $chr_type=($chr1 eq $chr2)? "INTRA":"INTER"; - - #if strand filtering - if (defined $t[16]){ - #if inter-chr link - $sv_type=$t[16]; - if(defined $t[17] && $t[17]=~/^(\d+)\/(\d+)$/){ - $strand_ratio=floor($1/$2*100)."%"; - $score=$t[18]; - } - if(defined $t[18] && $t[18]=~/^(\d+)\/(\d+)$/){ - #if intra-chr link with insert size filtering - $strand_ratio=floor($1/$2*100)."%"; - $link=floor($t[17]); - if($sv_type!~/^INV/){ - $insert_ratio=floor($1/$2*100)."%" if($t[19]=~/^(\d+)\/(\d+)$/); - $score=$t[20]; - }else{ - $score=$t[19]; - } - } - } - - if(defined $t[18] && ($t[18] eq "UNBAL" || $t[18] eq "BAL")){ - - #if strand and order filtering only and/or interchr link - $eq_type=$t[18]; - $eq_ratio=floor($1/$2*100)."%" if($t[19]=~/^(\d+)\/(\d+)$/); - ($bk1, $bk2)=($t[20],$t[21]); - foreach my $bk ($bk1, $bk2){$bk=~s/\),\(/ /g; $bk=~s/(\(|\))//g; $bk=~s/,/-/g;} - $score=$t[22]; - - }elsif(defined $t[19] && ($t[19] eq "UNBAL" || $t[19] eq "BAL")){ - - #if all three filtering - $link=floor($t[17]); - $eq_type=$t[19]; - $eq_ratio=floor($1/$2*100)."%" if($t[20]=~/^(\d+)\/(\d+)$/); - - if(defined $t[21] && $t[21]=~/^(\d+)\/(\d+)$/){ - $insert_ratio=floor($1/$2*100)."%"; - ($bk1, $bk2)=($t[22],$t[23]); - $score=$t[24]; - - }else{ - ($bk1, $bk2)=($t[21],$t[22]); - $score=$t[23]; - } - foreach my $bk ($bk1, $bk2){$bk=~s/\),\(/ /g; $bk=~s/(\(|\))//g; $bk=~s/,/-/g;} - - } - - - push(@sv, $chr_type, $sv_type,$eq_type); - push(@sv,"$chr1\t$start1-$end1"); - push(@sv, $link); - push(@sv,"$chr2\t$start2-$end2", - $nb_pairs,$strand_ratio,$eq_ratio,$insert_ratio, decimal($score,4), $bk1, $bk2); - - - print SV join("\t",@sv)."\n"; - } - - close LINKS; - close SV; - - system "sort -k 9,9nr -k 13,13nr $sv_file > $sv_file.sorted"; - - open SV, "<".$sv_file.".sorted" or die "$0: can't open in the output: $sv_file".".sorted :$!\n"; - my @links=<SV>; - close SV; - - open SV, ">$sv_file" or die "$0: can't write in the output: $sv_file :$!\n"; - - print SV join("\t",@header)."\n"; - print SV @links; - close SV; - - unlink($sv_file.".sorted"); - - print LOG "-- output created: $sv_file\n"; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub deleteBadOrderSensePairs{ - - my (@tab)=@_; - my @tab2; - - foreach my $v (@tab){ - - $v=~s/[\(\)]//g; - push(@tab2,$v) if($v!~/[\$\*\@]$/); - } - return @tab2; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#gets starts and ends Coords when start=leftmost given positions, directions and orders -sub getCoordswithLeftMost { - - my ($starts,$ends,$positions,$strand,$end_order,$tag_length) = @_; - - for my $i (0..scalar(@{$positions})-1) { - - if($strand->[$i] eq 'F'){ - $starts->[$i]=$positions->[$i]; - $ends->[$i]=$positions->[$i]+$tag_length->{$end_order->[$i]}-1; - }else{ - $starts->[$i]=$positions->[$i]-$tag_length->{$end_order->[$i]}+1; - $ends->[$i]=$positions->[$i]; - } - } -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub floor { - my $nb = $_[0]; - $nb=~ s/\..*//; - return $nb; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub decimal{ - - my $num=shift; - my $digs_to_cut=shift; - - $num=sprintf("%.".($digs_to_cut-1)."f", $num) if ($num=~/\d+\.(\d){$digs_to_cut,}/); - - return $num; -} - -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#Sort links according the concerned chromosomes and their coordinates -sub sortLinks{ - - my ($links_file,$sortedlinks_file,$unique)=@_; - - print LOG "# Sorting links...\n"; - - my $pipe=($unique)? "| sort -u":""; - system "sort -k 1,1 -k 4,4 -k 2,2n -k 5,5n -k 8,8n $links_file $pipe > $sortedlinks_file"; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub getColor{ - - my($count,$hcolor,$format)=@_; - for my $col ( keys % { $hcolor} ) { - return $col if($count>=$hcolor->{$col}->[0] && $count<=$hcolor->{$col}->[1]); - } - return "white" if($format eq "circos"); - return "255,255,255" if($format eq "bed"); -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#check if the configuration file is correct -sub validateconfiguration{ - - my %conf=%{$_[0]}; - my $list_prgs="@ARGV"; - - my @circos_params=qw(organism_id colorcode); - my @bed_params=qw(colorcode); - my @compare_params=qw(list_samples list_read_lengths sample_link_file reference_link_file); - - unless (defined($conf{general}{output_dir})) { - $conf{general}{output_dir} = "."; - } - unless (-d $conf{general}{output_dir}){ - mkdir $conf{general}{output_dir} or die; - } - $conf{general}{output_dir}.="/" if($conf{general}{output_dir}!~/\/$/); - - - if($list_prgs=~/links2compare/){ - foreach my $p (@compare_params) { - die("Error Config : The compare parameter \"$p\" is not defined\n") if (!defined $conf{compare}{$p}); - } - - unless (defined($conf{compare}{same_sv_type})) { - $conf{compare}{same_sv_type} = 0; - } - - unless (defined($conf{compare}{min_overlap})) { - $conf{compare}{min_overlap} = 1E-9; - } - - if($conf{compare}{circos_output}){ - foreach my $p (@circos_params) { - next if($list_prgs=~/^ratio/ && $p eq "colorcode"); - die("Error Config : The circos parameter \"$p\" is not defined\n") if (!defined $conf{circos}{$p}); - } - } - if($conf{compare}{bed_output}){ - foreach my $p (@bed_params) { - die("Error Config : The bed parameter \"$p\" is not defined\n") if (!defined $conf{bed}{$p}); - } - die("Error Config : The compare parameter \"list_read_lengths\" is not defined\n") if (!defined $conf{compare}{list_read_lengths}); - - my @samples=split(",",$conf{compare}{list_samples}); - my @read_lengths=split(",",$conf{compare}{list_read_lengths}); - for my $i (0..$#samples){ - my @l=split("-",$read_lengths[$i]); - $conf{compare}{read_lengths}{$samples[$i]}={ 1=> $l[0], 2=> $l[1]}; - } - } - } - - -} -#------------------------------------------------------------------------------# -#::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::#
--- a/svdetect/SVDetect_compare.xml Thu Jul 12 12:03:16 2012 -0400 +++ /dev/null Thu Jan 01 00:00:00 1970 +0000 @@ -1,218 +0,0 @@ -<tool id="svdetect_compare" name="Compare"> - -<description>structural variants between two samples</description> - -<command interpreter="perl">SVDetect_compare.pl links2compare -conf '$config_file' -l '$log_file' -N '$sample_name.$reference_name' - -#if $links2SV --out1 '$common_sv_file' --out2 '$sample_sv_file' --out3 '$reference_sv_file' -#end if - -#if $file_conversion.file_conversion_select=="convert" and $file_conversion.links2circos --out4 '$common_circos_file' --out5 '$sample_circos_file' --out6 '$reference_circos_file' -#end if - -#if $file_conversion.file_conversion_select=="convert" and $file_conversion.links2bed --out7 '$common_bed_file' --out8 '$sample_bed_file' --out9 '$reference_bed_file' -#end if - -</command> - -<inputs> - <param name="sample_name" type="text" size="20" value="sample" label="Sample Name"/> - <param name="sample_read1_length" type="integer" size="10" value="50" label="Sample read 1 length (bp)"/> - <param name="sample_read2_length" type="integer" size="10" value="50" label="Sample read 2 length (bp)"/> - <param name="sample_mates_file" type="data" format="sv" label="Sample input file" help=".sv file"/> - - <param name="reference_name" type="text" size="20" value="reference" label="Reference Name"/> - <param name="reference_read1_length" type="integer" size="10" value="50" label="Reference read 1 length (bp)"/> - <param name="reference_read2_length" type="integer" size="10" value="50" label="Reference read 2 length (bp)"/> - <param name="reference_mates_file" type="data" format="sv" label="Reference input file" help=".sv file"/> - - <param name="min_overlap" type="float" size="10" value="0.05" label="Minimum overlap of links required as a fraction"/> - <param name="same_sv_type" label="Comparison of SVs with the same type only ?" type="boolean" truevalue="1" falsevalue="0" checked="True"/> - - <param name="links2SV" label="Do you want to have filtered links in a tabulated file format showing significant SVs?" type="boolean" truevalue="1" falsevalue="0" checked="True"/> - - <conditional name="file_conversion"> - <param name="file_conversion_select" type="select" label="Output file conversion" help="Converts filtered links to Circos/BED files format for graphical view of SVs"> - <option value="do_not_convert">No</option> - <option value="convert">Yes</option> - </param> - <when value="do_not_convert"> - <!-- do nothing here --> - </when> - <when value="convert"> - <param name="links2circos" label="Converts the link list to the Circos link format" type="boolean" truevalue="1" falsevalue="0" checked="True"/> - <param name="links2bed" label="Converts the link list to the UCSC BED format" type="boolean" truevalue="1" falsevalue="0" checked="False"/> - <param name="organism_id" type="text" size="10" value="hs" label="Organism ID"/> - <repeat name="color_code" title="Color-code" min="1" max="7"> - <param name="color" type="select" label="Color"> - <option value="grey">grey</option> - <option value="black">black</option> - <option value="blue">blue</option> - <option value="green">green</option> - <option value="purple">purple</option> - <option value="orange">orange</option> - <option value="red">red</option> - </param> - <param name="interval" type="text" value="1,3" label="Interval"/> - </repeat> - </when> - </conditional> -</inputs> - - - -<outputs> - <data format="sv" name="common_sv_file" label="common.compared.sv"> - <filter>links2SV is True</filter> - </data> - <data format="sv" name="sample_sv_file" label="${sample_name}.compared.sv"> - <filter>links2SV is True</filter> - </data> - <data format="sv" name="reference_sv_file" label="${reference_name}.compared.sv"> - <filter>links2SV is True</filter> - </data> - - <data format="segdup" name="common_circos_file" label="common.compared.segdup"> - <filter>( - file_conversion['file_conversion_select']=="convert" and - file_conversion['links2circos'] is True - ) - </filter> - </data> - <data format="segdup" name="sample_circos_file" label="${sample_name}.compared.segdup"> - <filter>( - file_conversion['file_conversion_select']=="convert" and - file_conversion['links2circos'] is True - ) - </filter> - </data> - <data format="segdup" name="reference_circos_file" label="${reference_name}.compared.segdup"> - <filter>( - file_conversion['file_conversion_select']=="convert" and - file_conversion['links2circos'] is True - ) - </filter> - </data> - - <data format="bed" name="common_bed_file" label="common.compared.bed"> - <filter>( - file_conversion['file_conversion_select']=="convert" and - file_conversion['links2bed'] is True - ) - </filter> - </data> - <data format="bed" name="sample_bed_file" label="${sample_name}.compared.bed"> - <filter>( - file_conversion['file_conversion_select']=="convert" and - file_conversion['links2bed'] is True - ) - </filter> - </data> - <data format="bed" name="reference_bed_file" label="${reference_name}.compared.bed"> - <filter>( - file_conversion['file_conversion_select']=="convert" and - file_conversion['links2bed'] is True - ) - </filter> - </data> - - <data format="txt" name="log_file" label="${sample_name}.${reference_name}.svdetect_compare.log"/> -</outputs> - - - -<configfiles> - <configfile name="config_file"> -<general> -output_dir=$__new_file_path__/svdetect -</general> - -#if $file_conversion.file_conversion_select == "convert" -#if $file_conversion.links2circos -<circos> -organism_id=${file_conversion.organism_id} -<colorcode> -#for $color_repeat in $file_conversion.color_code -${color_repeat.color}=${color_repeat.interval} -#end for -</colorcode> -</circos> -#end if -#if $file_conversion.links2bed -<bed> -<colorcode> -#for $color_repeat in $file_conversion.color_code -#if str($color_repeat.color)== "grey" -190,190,190=${color_repeat.interval} -#end if -#if str($color_repeat.color)== "black" -0,0,0=${color_repeat.interval} -#end if -#if str($color_repeat.color)== "blue" -0,0,255=${color_repeat.interval} -#end if -#if str($color_repeat.color)== "green" -0,255,0=${color_repeat.interval} -#end if -#if str($color_repeat.color)== "purple" -153,50,205=${color_repeat.interval} -#end if -#if str($color_repeat.color)== "orange" -255,140,0=${color_repeat.interval} -#end if -#if str($color_repeat.color)== "red" -255,0,0=${color_repeat.interval} -#end if -#end for -</colorcode> -</bed> -#end if -#end if - -<compare> -list_samples=${sample_name},${reference_name} -list_read_lengths=${sample_read1_length}-${sample_read2_length},${reference_read1_length}-${reference_read2_length} -sample_link_file=${sample_mates_file} -reference_link_file=${reference_mates_file} -min_overlap=${min_overlap} -same_sv_type=${same_sv_type} -sv_output=${links2SV} -#if $file_conversion.file_conversion_select == "convert" -circos_output=${$file_conversion.links2circos} -bed_output=${$file_conversion.links2bed} -#end if -</compare> - - </configfile> -</configfiles> - - <help> -**What it does** - -SVDetect - Version : 0.8 - -Comparison of clusters between two samples to get common or sample-specific SVs - -This program is designed to compare filtered links between two anomalously mapped mate-pair/paired-end datasets -and to identify common and sample-specific SVs (like the usual sample/reference design). -Overlaps between coordinates of clusters and types of SVs are used as parameters of comparison. - -Manual documentation available at the http://svdetect.sourceforge.net/Site/Manual.html - ------ - -.. class:: infomark - -Contact Bruno Zeitouni (bruno.zeitouni@curie.fr) for any questions or concerns about the Galaxy implementation of SVDetect. - </help> - -</tool>
--- a/svdetect/SVDetect_import.sh Thu Jul 12 12:03:16 2012 -0400 +++ /dev/null Thu Jan 01 00:00:00 1970 +0000 @@ -1,15 +0,0 @@ -#!/bin/bash - - -while getopts "i:o:" optionName; do -case "$optionName" in - -i) INPUT="$OPTARG";; -o) OUTPUT="$OPTARG";; - -esac -done - -rm $OUTPUT - -ln -s $INPUT $OUTPUT
--- a/svdetect/SVDetect_import.xml Thu Jul 12 12:03:16 2012 -0400 +++ /dev/null Thu Jan 01 00:00:00 1970 +0000 @@ -1,85 +0,0 @@ -<tool id="svdetect_import" name="Import data"> - <description>BAM, chromosome info or sv files</description> - <command interpreter="bash">SVDetect_import.sh -i $file_path - #if str($type.file_type)=="bam" - -o $outbamfile - #elif str($type.file_type)=="len" - -o $outlenfile - #elif str($type.file_type)=="sv" - -o $outsvfile - #end if - </command> - <inputs> - <param name="file_name" type="text" value="file1" label="File Name"/> - <conditional name="type"> - <param name="file_type" type="select" label="Select the file type to import" help="BAM file (BAM) or text file (SAM, chromosome list or a SV tabulated text file)"> - <option value="bam">BAM file (.bam)</option> - <option value="len">Chromosome info file (.len)</option> - <option value="sv">SVDetect output file (.sv)</option> - </param> - <when value="bam"> - <!-- do nothing here --> - </when> - <when value="len"> - <!-- do nothing here --> - </when> - <when value="sv"> - <!-- do nothing here --> - </when> - </conditional> - <param name="file_path" type="text" size="150" label="Path to file"/> - </inputs> - <outputs> - <data format="bam" name="outbamfile" label="${file_name}.bam"> - <filter>type['file_type']=="bam"</filter> - </data> - <data format="len" name="outlenfile" label="${file_name}.len"> - <filter>type['file_type']=="len"</filter> - </data> - <data format="sv" name="outsvfile" label="${file_name}.sv"> - <filter>type['file_type']=="sv"</filter> - </data> - </outputs> - <help> -**What it does** - -This tool allows you to import quickly a BAM file, a chromosome info file or a SVDetect output file from you computer as inputs for SVDetect. - - -**Example of chromosome file** - -Input len file:: - - 1 chr1 247249719 - 2 chr2 242951149 - 3 chr3 199501827 - 4 chr4 191273063 - 5 chr5 180857866 - 6 chr6 170899992 - 7 chr7 158821424 - 8 chr8 146274826 - 9 chr9 140273252 - 10 chr10 135374737 - 11 chr11 134452384 - 12 chr12 132349534 - 13 chr13 114142980 - 14 chr14 106368585 - 15 chr15 100338915 - 16 chr16 88827254 - 17 chr17 78774742 - 18 chr18 76117153 - 19 chr19 63811651 - 20 chr20 62435964 - 21 chr21 46944323 - 22 chr22 49691432 - 23 chrX 154913754 - 24 chrY 57772954 - ------ - -.. class:: infomark - -Contact Bruno Zeitouni (bruno.zeitouni@curie.fr) for any questions or concerns about the Galaxy implementation of SVDetect. - </help> - -</tool>
--- a/svdetect/SVDetect_run_parallel.pl Thu Jul 12 12:03:16 2012 -0400 +++ /dev/null Thu Jan 01 00:00:00 1970 +0000 @@ -1,3537 +0,0 @@ -#!/usr/bin/perl -w - -=pod - -=head1 NAME - -SVDetect - Program designed to the detection of structural variations -from paired-end/mate-pair sequencing data, compatible with SOLiD and Illumina (>=1.3) reads - -Version: 0.8 for Galaxy - -=head1 SYNOPSIS - -SVDetect <command> -conf <configuration_file> [-help] [-man] - - Command: - - linking detection and isolation of links - filtering filtering of links according different parameters - links2circos links conversion to circos format - links2bed paired-ends of links converted to bed format (UCSC) - links2SV formatted output to show most significant SVs - cnv calculate copy-number profiles - ratio2circos ratio conversion to circos density format - ratio2bedgraph ratio conversion to bedGraph density format (UCSC) - -=head1 DESCRIPTION - -This is a command-line interface to SVDetect. - - -=head1 AUTHORS - -Bruno Zeitouni E<lt>bruno.zeitouni@curie.frE<gt>, -Valentina Boeva E<lt>valentina.boeva@curie.frE<gt> - -=cut - -# ------------------------------------------------------------------- - -use strict; -use warnings; - -use Pod::Usage; -use Getopt::Long; - -use Config::General; -use Tie::IxHash; -use FileHandle; -use Parallel::ForkManager; - -#::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::# -#PARSE THE COMMAND LINE -my %OPT; -GetOptions(\%OPT, - 'conf=s', - 'out1=s', #GALAXY - 'out2=s', #GALAXY - 'out3=s', #GALAXY - 'out4=s', #GALAXY - 'out5=s', #GALAXY - 'l=s', #GALAXY - 'N=s',#GALAXY - 'help',#GALAXY - 'man' - ); - -pod2usage() if $OPT{help}; -pod2usage(-verbose=>2) if $OPT{man}; -pod2usage(-message=> "$!", -exitval => 2) if (!defined $OPT{conf}); - -pod2usage() if(@ARGV<1); - -tie (my %func, 'Tie::IxHash',linking=>\&createlinks, - filtering=>\&filterlinks, - links2circos=>\&links2circos, - links2bed=>\&links2bed, - links2compare=>\&links2compare, - links2SV=>\&links2SV, - cnv=>\&cnv, - ratio2circos=>\&ratio2circos, - ratio2bedgraph=>\&ratio2bedgraph); - -foreach my $command (@ARGV){ - pod2usage(-message=> "Unknown command \"$command\"", -exitval => 2) if (!defined($func{$command})); -} -#::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::# - - -#::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::# -#READ THE CONFIGURATION FILE -my $conf=Config::General->new( -ConfigFile => $OPT{conf}, - -Tie => "Tie::IxHash", - -AllowMultiOptions => 1, - -LowerCaseNames => 1, - -AutoTrue => 1); -my %CONF= $conf->getall; -validateconfiguration(\%CONF); #validation of the configuration parameters - -my $SAMTOOLS_BIN_DIR="/bioinfo/local/samtools"; #GALAXY - -my $pt_log_file=$OPT{l}; #GALAXY -my $pt_links_file=$OPT{out1} if($OPT{out1}); #GALAXY -my $pt_flinks_file=$OPT{out2} if($OPT{out2}); #GALAXY -my $pt_sv_file=$OPT{out3} if($OPT{out3}); #GALAXY -my $pt_circos_file=$OPT{out4} if($OPT{out4}); #GALAXY -my $pt_bed_file=$OPT{out5} if($OPT{out5}); #GALAXY - -$CONF{general}{mates_file}=readlink($CONF{general}{mates_file});#GALAXY -$CONF{general}{cmap_file}=readlink($CONF{general}{cmap_file});#GALAXY - -my $log_file=$CONF{general}{output_dir}.$OPT{N}.".svdetect_run.log"; #GALAXY -open LOG,">$log_file" or die "$0: can't open ".$log_file.":$!\n";#GALAXY -#::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::# - -#::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::# -#COMMAND EXECUTION -foreach my $command (@ARGV){ - &{$func{$command}}(); -} -print LOG "-- end\n";#GALAXY - -close LOG;#GALAXY -system "rm $pt_log_file ; ln -s $log_file $pt_log_file"; #GALAXY -exit(0); -#::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::# - - -#::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::# -#FUNCTIONS -#------------------------------------------------------------------------------# -#MAIN FUNCTION number 1: Detection of links from mate-pairs data -sub createlinks{ - - my %CHR; #main hash table 1: fragments, links - my %CHRID; - my @MATEFILES; - - my $output_prefix=$CONF{general}{mates_file}.".".$CONF{general}{sv_type}; - my @path=split(/\//,$output_prefix); - $output_prefix=$CONF{general}{output_dir}.$path[$#path]; - my $tmp_mates_prefix=$CONF{general}{tmp_dir}."mates/".$path[$#path]; - my $tmp_links_prefix=$CONF{general}{tmp_dir}."links/".$path[$#path]; - - shearingChromosome(\%CHR, \%CHRID, #making the genomic fragment library with the detection parameters - $CONF{detection}{window_size}, - $CONF{detection}{step_length}, - $CONF{general}{cmap_file}); - - if($CONF{detection}{split_mate_file}){ - - splitMateFile(\%CHR, \%CHRID, \@MATEFILES, $tmp_mates_prefix, - $CONF{general}{sv_type}, - $CONF{general}{mates_file}, - $CONF{general}{input_format}, - $CONF{general}{read_lengths} - ); - }else{ - - @MATEFILES=qx{ls $tmp_mates_prefix*} or die "# Error: No splitted mate files already created at $CONF{general}{tmp_dir} :$!"; - chomp(@MATEFILES); - print LOG "# Splitted mate files already created.\n"; - } - - - #Parallelization of the linking per chromosome for intra + interchrs - my $pm = new Parallel::ForkManager($CONF{general}{num_threads}); - - foreach my $matefile (@MATEFILES){ - - my $pid = $pm->start and next; - getlinks(\%CHR, \%CHRID, $matefile); - $pm->finish; - - } - $pm->wait_all_children; - - #Merge the chromosome links file into only one - my @LINKFILES= qx{ls $tmp_links_prefix*links} or die "# Error: No links files created at $CONF{general}{tmp_dir} :$!"; - chomp(@LINKFILES); - catFiles( \@LINKFILES => "$output_prefix.links" ); - - system "rm $pt_links_file; ln -s $output_prefix.links $pt_links_file" if (defined $pt_links_file); #GALAXY - print LOG "# Linking end procedure : output created: $output_prefix.links\n"; - #unlink(@LINKFILES); - #unlink(@MATEFILES); - - undef %CHR; - undef %CHRID; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub getlinks { - - my ($chr,$chrID,$tmp_mates_prefix)=@_; - - my $tmp_links_prefix=$tmp_mates_prefix; - $tmp_links_prefix=~s/\/mates\//\/links\//; - - my %PAIR; #main hash table 2: pairs - - linking($chr,$chrID, \%PAIR, #creation of all links from chromosome coordinates of pairs - $CONF{general}{read_lengths}, - $CONF{detection}{window_size}, - $CONF{detection}{step_length}, - $tmp_mates_prefix, - $CONF{general}{input_format}, - $CONF{general}{sv_type}, - "$tmp_links_prefix.links.mapped" - ); - - getUniqueLinks("$tmp_links_prefix.links.mapped", #remove the doublons - "$tmp_links_prefix.links.unique"); - - defineCoordsLinks($chr,$chrID, \%PAIR, #definition of the precise coordinates of links - $CONF{general}{input_format}, - $CONF{general}{sv_type}, - $CONF{general}{read_lengths}, - "$tmp_links_prefix.links.unique", - "$tmp_links_prefix.links.unique_defined"); - - sortLinks("$tmp_links_prefix.links.unique_defined", #sorting links from coordinates - "$tmp_links_prefix.links.sorted"); - - removeFullyOverlappedLinks("$tmp_links_prefix.links.sorted", #remove redundant links - "$tmp_links_prefix.links",1); #file output - - - undef %PAIR; - - unlink("$tmp_links_prefix.links.mapped", - "$tmp_links_prefix.links.unique", - "$tmp_links_prefix.links.unique_defined", - "$tmp_links_prefix.links.sorted"); -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub splitMateFile{ - - my ($chr,$chrID,$files_list,$output_prefix,$sv_type,$mates_file,$input_format,$tag_length)=@_; - - print LOG "# Splitting the mate file \"$mates_file\" for parallel processing...\n"; - - my %filesHandle; - - #fichier matefile inter - if($sv_type=~/^(all|inter)$/){ - my $newFileName="$output_prefix.interchrs"; - push(@{$files_list},$newFileName); - my $fh = new FileHandle; - $fh->open(">$newFileName"); - $filesHandle{inter}=$fh; - } - - #fichiers matefiles intra - if($sv_type=~/^(all|intra)$/){ - foreach my $k (1..$chr->{nb_chrs}){ - my $newFileName=$output_prefix.".".$chr->{$k}->{name}; - push(@{$files_list},$newFileName); - my $fh = new FileHandle; - $fh->open(">$newFileName"); - $filesHandle{$k}=$fh; - } - } - - if ($mates_file =~ /.gz$/) { - open(MATES, "gunzip -c $mates_file |") or die "$0: can't open ".$mates_file.":$!\n"; #gzcat - }elsif($mates_file =~ /.bam$/){ - open(MATES, "$SAMTOOLS_BIN_DIR/samtools view $mates_file |") or die "$0: can't open ".$mates_file.":$!\n";#GALAXY - }else{ - open MATES, "<".$mates_file or die "$0: can't open ".$mates_file.":$!\n"; - } - - - while(<MATES>){ - - my @t=split; - my ($chr_read1, $chr_read2, $firstbase_read1, $firstbase_read2, $end_order_read1,$end_order_read2); - - next if (!readMateFile(\$chr_read1, \$chr_read2, \$firstbase_read1, \$firstbase_read2, \$end_order_read1, \$end_order_read2, \@t, $input_format,$tag_length)); - - next unless (exists $chrID->{$chr_read1} && exists $chrID->{$chr_read2}); - - ($chr_read1, $chr_read2)= ($chrID->{$chr_read1},$chrID->{$chr_read2}); - - if( ($sv_type=~/^(all|inter)$/) && ($chr_read1 ne $chr_read2) ){ - my $fh2print=$filesHandle{inter}; - print $fh2print join("\t",@t)."\n"; - } - - if( ($sv_type=~/^(all|intra)$/) && ($chr_read1 eq $chr_read2) ){ - my $fh2print=$filesHandle{$chr_read1}; - print $fh2print join("\t",@t)."\n"; - - } - } - - foreach my $name (keys %filesHandle){ - my $fh=$filesHandle{$name}; - $fh->close; - } - - print LOG "# Splitted mate files of \"$mates_file\" created.\n"; -} - - -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub filterlinks{ - - my %CHR; - my %CHRID; - my @LINKFILES; - my @FLINKFILES; - - my $output_prefix=$CONF{general}{mates_file}.".".$CONF{general}{sv_type}; - my @path=split(/\//,$output_prefix); - $output_prefix=$CONF{general}{output_dir}.$path[$#path]; - my $tmp_links_prefix=$CONF{general}{tmp_dir}."links/".$path[$#path]; - - createChrHashTables(\%CHR,\%CHRID, - $CONF{general}{cmap_file}); - - if($CONF{filtering}{split_link_file}){ - - splitLinkFile(\%CHR, \%CHRID, \@LINKFILES, - $tmp_links_prefix, - $CONF{general}{sv_type}, - "$output_prefix.links", - ); - }else{ - - @LINKFILES=qx{ls $tmp_links_prefix*links} or die "# Error: No splitted link files already created\n"; - chomp(@LINKFILES); - print LOG "# Splitted link files already created.\n"; - } - - #Parallelization of the filtering per chromosome for intra + interchrs - my $pm = new Parallel::ForkManager($CONF{general}{num_threads}); - - foreach my $linkfile (@LINKFILES){ - - my $pid = $pm->start and next; - getFilteredlinks(\%CHR, \%CHRID, $linkfile); - $pm->finish; - - } - $pm->wait_all_children; - - #Merge the chromosome links file into only one - @FLINKFILES= qx{ls $tmp_links_prefix*filtered} or die "# Error: No links files created\n"; - chomp(@FLINKFILES); - catFiles( \@FLINKFILES => "$output_prefix.links.filtered" ); - - system "rm $pt_flinks_file; ln -s $output_prefix.links.filtered $pt_flinks_file" if (defined $pt_flinks_file); #GALAXY - print LOG"# Filtering end procedure : output created: $output_prefix.links.filtered\n"; - - undef %CHR; - undef %CHRID; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub splitLinkFile{ - - my ($chr,$chrID,$files_list,$input_prefix,$sv_type,$link_file)=@_; - - print LOG "# Splitting the link file for parallel processing...\n"; - - my %filesHandle; - - #fichier matefile inter - if($sv_type=~/^(all|inter)$/){ - my $newFileName="$input_prefix.interchrs.links"; - push(@{$files_list},$newFileName); - my $fh = new FileHandle; - $fh->open(">$newFileName"); - $filesHandle{inter}=$fh; - } - - #fichiers matefiles intra - if($sv_type=~/^(all|intra)$/){ - foreach my $k (1..$chr->{nb_chrs}){ - my $newFileName=$input_prefix.".".$chr->{$k}->{name}.".links"; - push(@{$files_list},$newFileName); - my $fh = new FileHandle; - $fh->open(">$newFileName"); - $filesHandle{$k}=$fh; - } - } - - open LINKS, "<".$link_file or die "$0: can't open ".$link_file.":$!\n"; - while(<LINKS>){ - - my @t=split; - my ($chr_read1,$chr_read2)=($t[0],$t[3]); - - next unless (exists $chrID->{$chr_read1} && exists $chrID->{$chr_read2}); - - ($chr_read1, $chr_read2)= ($chrID->{$chr_read1},$chrID->{$chr_read2}); - - if( ($sv_type=~/^(all|inter)$/) && ($chr_read1 ne $chr_read2) ){ - my $fh2print=$filesHandle{inter}; - print $fh2print join("\t",@t)."\n"; - } - - if( ($sv_type=~/^(all|intra)$/) && ($chr_read1 eq $chr_read2) ){ - my $fh2print=$filesHandle{$chr_read1}; - print $fh2print join("\t",@t)."\n"; - - } - } - - foreach my $name (keys %filesHandle){ - my $fh=$filesHandle{$name}; - $fh->close; - } - - print LOG "# Splitted link files created.\n"; -} - - -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#MAIN FUNCTION number 2: Filtering processing -sub getFilteredlinks { - - my ($chr,$chrID,$tmp_links_prefix)=@_; - my %PAIR; - - strandFiltering($chr,$chrID, - $CONF{filtering}{nb_pairs_threshold}, #filtering of links - $CONF{filtering}{strand_filtering}, - $CONF{filtering}{chromosomes}, - $CONF{general}{input_format}, - $CONF{general}{cmap_file}, - $CONF{general}{mates_orientation}, - $CONF{general}{read_lengths}, - $tmp_links_prefix, - "$tmp_links_prefix.filtered", - ); - - if($CONF{filtering}{strand_filtering}){ #re-definition of links coordinates with strand filtering - - my @tmpfiles; - - rename("$tmp_links_prefix.filtered","$tmp_links_prefix.filtered_unique"); - - getUniqueLinks("$tmp_links_prefix.filtered_unique", - "$tmp_links_prefix.filtered"); - - push(@tmpfiles,"$tmp_links_prefix.filtered_unique"); - - if($CONF{filtering}{order_filtering}){ #filtering using the order - - rename("$tmp_links_prefix.filtered","$tmp_links_prefix.filtered_ordered"); - - orderFiltering($chr,$chrID, - $CONF{filtering}{nb_pairs_threshold}, - $CONF{filtering}{nb_pairs_order_threshold}, - $CONF{filtering}{mu_length}, - $CONF{filtering}{sigma_length}, - $CONF{general}{mates_orientation}, - $CONF{general}{read_lengths}, - "$tmp_links_prefix.filtered_ordered", - "$tmp_links_prefix.filtered", - ); - - push(@tmpfiles,"$tmp_links_prefix.filtered_ordered"); - } - - if (($CONF{filtering}{insert_size_filtering})&& - ($CONF{general}{sv_type} ne 'inter')){ - - rename("$tmp_links_prefix.filtered","$tmp_links_prefix.filtered_withoutIndelSize"); - - addInsertionInfo($chr,$chrID, - $CONF{filtering}{nb_pairs_threshold}, - $CONF{filtering}{order_filtering}, - $CONF{filtering}{indel_sigma_threshold}, - $CONF{filtering}{dup_sigma_threshold}, - $CONF{filtering}{singleton_sigma_threshold}, - $CONF{filtering}{mu_length}, - $CONF{filtering}{sigma_length}, - $CONF{general}{mates_orientation}, - $CONF{general}{read_lengths}, - "$tmp_links_prefix.filtered_withoutIndelSize", - "$tmp_links_prefix.filtered" - ); - - push(@tmpfiles,"$tmp_links_prefix.filtered_withoutIndelSize"); - } - - sortLinks("$tmp_links_prefix.filtered", - "$tmp_links_prefix.filtered_sorted"); - - removeFullyOverlappedLinks("$tmp_links_prefix.filtered_sorted", - "$tmp_links_prefix.filtered_nodup", - ); - - postFiltering("$tmp_links_prefix.filtered_nodup", - "$tmp_links_prefix.filtered", - $CONF{filtering}{final_score_threshold}); - - push(@tmpfiles,"$tmp_links_prefix.filtered_sorted","$tmp_links_prefix.filtered_nodup"); - - unlink(@tmpfiles); - - - } - undef %PAIR; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#MAIN FUNCTION number 3: Circos format conversion for links -sub links2circos{ - - my $input_file=$CONF{general}{mates_file}.".".$CONF{general}{sv_type}.".links.filtered"; - my @path=split(/\//,$input_file); - $input_file=$CONF{general}{output_dir}.$path[$#path]; - - my $output_file.=$input_file.".segdup.txt"; - - links2segdup($CONF{circos}{organism_id}, - $CONF{circos}{colorcode}, - $input_file, - $output_file); #circos file output - - system "rm $pt_circos_file; ln -s $output_file $pt_circos_file" if (defined $pt_circos_file); #GALAXY -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#MAIN FUNCTION number 4: Bed format conversion for links -sub links2bed{ - - my $input_file=$CONF{general}{mates_file}.".".$CONF{general}{sv_type}.".links.filtered"; - my @path=split(/\//,$input_file); - $input_file=$CONF{general}{output_dir}.$path[$#path]; - - my $output_file.=$input_file.".bed.txt"; - - links2bedfile($CONF{general}{read_lengths}, - $CONF{bed}{colorcode}, - $input_file, - $output_file); #bed file output - - system "rm $pt_bed_file; ln -s $output_file $pt_bed_file" if (defined $pt_bed_file); #GALAXY - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#MAIN FUNCTION number 6: Bed format conversion for links -sub links2SV{ - - my $input_file=$CONF{general}{mates_file}.".".$CONF{general}{sv_type}.".links.filtered"; - - my @path=split(/\//,$input_file); - $input_file=$CONF{general}{output_dir}.$path[$#path]; - - my $output_file.=$input_file.".sv.txt"; - - - links2SVfile( $input_file, - $output_file); - - system "rm $pt_sv_file; ln -s $output_file $pt_sv_file" if (defined $pt_sv_file); #GALAXY -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#MAIN FUNCTION number 7: copy number variations, coverage ratio calculation -sub cnv{ - - my %CHR; - my %CHRID; - my @MATEFILES; - my @MATEFILES_REF; - - my $output_prefix=$CONF{general}{mates_file}; - my $output_prefix_ref=$CONF{detection}{mates_file_ref}; - my @path=split(/\//,$output_prefix); - my @path_ref=split(/\//,$output_prefix_ref); - $output_prefix=$CONF{general}{output_dir}.$path[$#path]; - $output_prefix_ref=$CONF{general}{output_dir}.$path_ref[$#path_ref]; - my $tmp_mates_prefix=$CONF{general}{tmp_dir}."mates/".$path[$#path]; - my $tmp_mates_prefix_ref=$CONF{general}{tmp_dir}."mates/".$path_ref[$#path_ref]; - my $tmp_density_prefix=$CONF{general}{tmp_dir}."density/".$path[$#path]; - - shearingChromosome(\%CHR, \%CHRID, #making the genomic fragment library with the detection parameters - $CONF{detection}{window_size}, - $CONF{detection}{step_length}, - $CONF{general}{cmap_file}); - - if($CONF{detection}{split_mate_file}){ - - splitMateFile(\%CHR, \%CHRID, \@MATEFILES, $tmp_mates_prefix, - "intra", - $CONF{general}{mates_file}, - $CONF{general}{input_format}, - $CONF{general}{read_lengths} - ); - - splitMateFile(\%CHR, \%CHRID, \@MATEFILES_REF, $tmp_mates_prefix_ref, - "intra", - $CONF{detection}{mates_file_ref}, - $CONF{general}{input_format}, - $CONF{general}{read_lengths} - ); - - - }else{ - - @MATEFILES=qx{ls $tmp_mates_prefix*} or die "# Error: No splitted sample mate files of \"$CONF{general}{mates_file}\" already created at $CONF{general}{tmp_dir} :$!"; - chomp(@MATEFILES); - @MATEFILES_REF=qx{ls $tmp_mates_prefix_ref*} or die "# Error: No splitted reference mate files of \"$CONF{detection}{mates_file_ref}\" already created at $CONF{general}{tmp_dir} :$!"; - chomp(@MATEFILES_REF); - print LOG "# Splitted sample and reference mate files already created.\n"; - } - - #Parallelization of the cnv per chromosome - my $pm = new Parallel::ForkManager($CONF{general}{num_threads}); - - foreach my $file (0..$#MATEFILES){ - - my $pid = $pm->start and next; - - densityCalculation(\%CHR, \%CHRID, $file, - $CONF{general}{read_lengths}, - $CONF{detection}{window_size}, - $CONF{detection}{step_length}, - \@MATEFILES, - \@MATEFILES_REF, - $MATEFILES[$file].".density", - $CONF{general}{input_format}); - - $pm->finish; - - } - $pm->wait_all_children; - - #Merge the chromosome links file into only one - my @DENSITYFILES= qx{ls $tmp_density_prefix*density} or die "# Error: No density files created at $CONF{general}{tmp_dir} :$!"; - chomp(@DENSITYFILES); - catFiles( \@DENSITYFILES => "$output_prefix.density" ); - - print LOG "# cnv end procedure : output created: $output_prefix.density\n"; - - - undef %CHR; - undef %CHRID; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#MAIN FUNCTION number 8: Circos format conversion for cnv ratios -sub ratio2circos{ - - my $input_file=$CONF{general}{mates_file}.".density"; - - my @path=split(/\//,$input_file); - $input_file=$CONF{general}{output_dir}.$path[$#path]; - - my $output_file.=$input_file.".segdup.txt"; - - ratio2segdup($CONF{circos}{organism_id}, - $input_file, - $output_file); -} -#------------------------------------------------------------------------------# -#MAIN FUNCTION number 9: BedGraph format conversion for cnv ratios -sub ratio2bedgraph{ - - my $input_file=$CONF{general}{mates_file}.".density"; - - my @path=split(/\//,$input_file); - $input_file=$CONF{general}{output_dir}.$path[$#path]; - - my $output_file.=$input_file.".bedgraph.txt"; - - ratio2bedfile($input_file, - $output_file); #bed file output -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#Creation of the fragment library -sub shearingChromosome{ - - print LOG "# Making the fragments library...\n"; - - my ($chr,$chrID,$window,$step,$cmap_file)=@_; #window and step sizes parameters - - createChrHashTables($chr,$chrID,$cmap_file); #hash tables: chromosome ID <=> chromsomes Name - - foreach my $k (1..$chr->{nb_chrs}){ - - print LOG"-- $chr->{$k}->{name}\n"; - - my $frag=1; - for (my $start=0; $start<$chr->{$k}->{length}; $start+=$step){ - - my $end=($start<($chr->{$k}->{length})-$window)? $start+$window-1:($chr->{$k}->{length})-1; - $chr->{$k}->{$frag}=[$start,$end]; #creation of fragments, coordinates storage - - if($end==($chr->{$k}->{length})-1){ - $chr->{$k}->{nb_frag}=$frag; #nb of fragments per chromosome - last; - } - $frag++; - } - } -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#Creation of chromosome hash tables from the cmap file -sub createChrHashTables{ - - my ($chr,$chrID,$cmap_file)=@_; - $chr->{nb_chrs}=0; - - open CMAP, "<".$cmap_file or die "$0: can't open ".$cmap_file.":$!\n"; - while(<CMAP>){ - - if(/^\s+$/){ next;} - my ($k,$name,$length) = split; - $chr->{$k}->{name}=$name; - $chr->{$k}->{length}=$length; - $chrID->{$name}=$k; - $chr->{nb_chrs}++; - - } - close CMAP; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#Read the mate file according the input format file (solid, eland or sam) -sub readMateFile{ - - my ($chr1,$chr2,$pos1,$pos2,$order1,$order2,$t,$file_type,$tag_length)=@_; - my ($strand1,$strand2); - - if($file_type eq "solid"){ - - ($$chr1,$$chr2,$$pos1,$$pos2,$$order1,$$order2)=($$t[6],$$t[7],$$t[8]+1,$$t[9]+1,1,2); #0-based - - }else{ - my ($tag_length1,$tag_length2); - ($$chr1,$$chr2,$$pos1,$strand1,$$pos2,$strand2,$$order1,$$order2,$tag_length1,$tag_length2)=($$t[11],$$t[12],$$t[7],$$t[8],$$t[9],$$t[10],1,2,length($$t[1]),length($$t[2])) #1-based - if($file_type eq "eland"); - - if($file_type eq "sam"){ - - return 0 if ($$t[0]=~/^@/); #header sam filtered out - - ($$chr1,$$chr2,$$pos1,$$pos2)=($$t[2],$$t[6],$$t[3],$$t[7]); - - return 0 if ($$chr1 eq "*" || $$chr2 eq "*"); - - $$chr2=$$chr1 if($$chr2 eq "="); - - $strand1 = (($$t[1]&0x0010))? 'R':'F'; - $strand2 = (($$t[1]&0x0020))? 'R':'F'; - - $$order1= (($$t[1]&0x0040))? '1':'2'; - $$order2= (($$t[1]&0x0080))? '1':'2'; - $tag_length1 = $tag_length->{$$order1}; - $tag_length2 = $tag_length->{$$order2}; - } - - $$pos1 = -($$pos1+$tag_length1) if ($strand1 eq "R"); #get sequencing starts - $$pos2 = -($$pos2+$tag_length2) if ($strand2 eq "R"); - } - return 1; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#Parsing of the mates files and creation of links between 2 chromosomal fragments -sub linking{ - - my ($chr,$chrID,$pair,$tag_length,$window_dist,$step,$mates_file,$input_format,$sv_type,$links_file)=@_; - my %link; - - my $record=0; - my $nb_links=0; - my $warn=10000; - - my @sfile=split(/\./,$mates_file); - my $fchr=$sfile[$#sfile]; - - my $fh = new FileHandle; - - print LOG "# $fchr : Linking procedure...\n"; - print LOG "-- file=$mates_file\n". - "-- chromosome=$fchr\n". - "-- input format=$input_format\n". - "-- type=$sv_type\n". - "-- read1 length=$tag_length->{1}, read2 length=$tag_length->{2}\n". - "-- window size=$window_dist, step length=$step\n"; - - if ($mates_file =~ /.gz$/) { - $fh->open("gunzip -c $mates_file |") or die "$0: can't open ".$mates_file.":$!\n"; #gzcat - }elsif($mates_file =~ /.bam$/){ - $fh->open("$SAMTOOLS_BIN_DIR/samtools view $mates_file |") or die "$0: can't open ".$mates_file.":$!\n";#GALAXY - }else{ - $fh->open("<".$mates_file) or die "$0: can't open ".$mates_file.":$!\n"; - } - - - while(<$fh>){ - - my @t=split; #for each mate-pair - my $mate=$t[0]; - my ($chr_read1, $chr_read2, $firstbase_read1, $firstbase_read2, $end_order_read1,$end_order_read2); - - next if(exists $$pair{$mate}); - - next if (!readMateFile(\$chr_read1, \$chr_read2, \$firstbase_read1, \$firstbase_read2, \$end_order_read1, \$end_order_read2, \@t, $input_format,$tag_length)); - - next unless (exists $chrID->{$chr_read1} && exists $chrID->{$chr_read2}); - - ($chr_read1, $chr_read2)= ($chrID->{$chr_read1},$chrID->{$chr_read2}); - - if($sv_type ne "all"){ - if( ($sv_type eq "inter") && ($chr_read1 ne $chr_read2) || - ($sv_type eq "intra") && ($chr_read1 eq $chr_read2) ){ - }else{ - next; - } - } - - $$pair{$mate}=[$chr_read1, $chr_read2, $firstbase_read1, $firstbase_read2, $end_order_read1, $end_order_read2 ]; #fill out the hash pair table (ready for the defineCoordsLinks function) - - $record++; - - my ($coord_start_read1,$coord_end_read1,$coord_start_read2,$coord_end_read2); #get the coordinates of each read - - recupCoords($firstbase_read1,\$coord_start_read1,\$coord_end_read1,$tag_length->{$end_order_read1},$input_format); - recupCoords($firstbase_read2,\$coord_start_read2,\$coord_end_read2,$tag_length->{$end_order_read2},$input_format); - - for(my $i=1;$i<=$chr->{$chr_read1}->{'nb_frag'};$i++){ #fast genome parsing for link creation - - if (abs ($coord_start_read1-${$chr->{$chr_read1}->{$i}}[0]) <= $window_dist){ - - if(overlap($coord_start_read1,$coord_end_read1,${$chr->{$chr_read1}->{$i}}[0],${$chr->{$chr_read1}->{$i}}[1])){ - - for(my $j=1;$j<=$chr->{$chr_read2}->{'nb_frag'};$j++){ - - if (abs ($coord_start_read2-${$chr->{$chr_read2}->{$j}}[0]) <= $window_dist) { - - if(overlap($coord_start_read2,$coord_end_read2,${$chr->{$chr_read2}->{$j}}[0],${$chr->{$chr_read2}->{$j}}[1])){ - - makeLink(\%link,$chr_read1,$i,$chr_read2,$j,$mate,\$nb_links); #make the link - } - - }else{ - - $j=getNextFrag($coord_start_read2,$j,${$chr->{$chr_read2}->{$j}}[0],$chr->{$chr_read2}->{nb_frag},$window_dist,$step); - } - } - } - - }else{ - - $i=getNextFrag($coord_start_read1,$i,${$chr->{$chr_read1}->{$i}}[0],$chr->{$chr_read1}->{nb_frag},$window_dist,$step); - } - } - - if($record>=$warn){ - print LOG "-- $fchr : $warn mate-pairs analysed - $nb_links links done\n"; - $warn+=10000; - } - } - $fh->close; - - if(!$nb_links){ - print LOG "-- $fchr : No mate-pairs !\n". - "-- $fchr : No links have been found with the selected type of structural variations \($sv_type\)\n"; - } - - print LOG "-- $fchr : Total : $record mate-pairs analysed - $nb_links links done\n"; - - print LOG "-- $fchr : writing...\n"; - - $fh = new FileHandle; - - $fh->open(">".$links_file) or die "$0: can't write in the output ".$links_file." :$!\n"; - - foreach my $chr1 ( sort { $a <=> $b} keys %link){ #Sorted links output - - foreach my $chr2 ( sort { $a <=> $b} keys %{$link{$chr1}}){ - - foreach my $frag1 ( sort { $a <=> $b} keys %{$link{$chr1}{$chr2}}){ - - foreach my $frag2 ( sort { $a <=> $b} keys %{$link{$chr1}{$chr2}{$frag1}}){ - - my @count=split(",",$link{$chr1}{$chr2}{$frag1}{$frag2}); - print $fh "$chr->{$chr1}->{name}\t".(${$chr->{$chr1}->{$frag1}}[0]+1)."\t".(${$chr->{$chr1}->{$frag1}}[1]+1)."\t". - "$chr->{$chr2}->{name}\t".(${$chr->{$chr2}->{$frag2}}[0]+1)."\t".(${$chr->{$chr2}->{$frag2}}[1]+1)."\t". - scalar @count."\t". #nb of read - $link{$chr1}{$chr2}{$frag1}{$frag2}."\n"; #mate list - } - } - } - } - - $fh->close; - - undef %link; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#remove exact links doublons according to the mate list -sub getUniqueLinks{ - - my ($links_file,$nrlinks_file)=@_; - my %links; - my %pt; - my $nb_links; - my $n=1; - - my $record=0; - my $warn=300000; - - my @sfile=split(/\./,$links_file); - my $fchr=$sfile[$#sfile-2]; - - my $fh = new FileHandle; - - print LOG "# $fchr : Getting unique links...\n"; - $fh->open("<$links_file") or die "$0: can't open $links_file :$!\n"; - - while(<$fh>){ - - my @t=split; - my $mates=$t[7]; - $record++; - - if(!exists $links{$mates}){ #Unique links selection - - $links{$mates}=[@t]; - $pt{$n}=$links{$mates}; - $n++; - - - }else{ #get the link coordinates from the mate-pairs list - - for my $i (1,2,4,5){ #get the shortest regions - - $links{$mates}->[$i]=($t[$i]>$links{$mates}->[$i])? $t[$i]:$links{$mates}->[$i] #maximum start - if($i==1 || $i==4); - $links{$mates}->[$i]=($t[$i]<$links{$mates}->[$i])? $t[$i]:$links{$mates}->[$i] #minimum end - if($i==2 || $i==5); - } - } - if($record>=$warn){ - print LOG "-- $fchr : $warn links analysed - ".($n-1)." unique links done\n"; - $warn+=300000; - } - } - $fh->close; - - $nb_links=$n-1; - print LOG "-- $fchr : Total : $record links analysed - $nb_links unique links done\n"; - - $fh = new FileHandle; - $fh->open(">$nrlinks_file") or die "$0: can't write in the output: $nrlinks_file :$!\n"; - print LOG "-- $fchr : writing...\n"; - for my $i (1..$nb_links){ - - print $fh join("\t",@{$pt{$i}})."\n"; #all links output - } - - $fh->close; - - undef %links; - undef %pt; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#get the new coordinates of each link from the mate list -sub defineCoordsLinks{ - - my ($chr,$chrID,$pair,$input_format,$sv_type,$tag_length,$links_file,$clinks_file)=@_; - - my @sfile=split(/\./,$links_file); - my $fchr=$sfile[$#sfile-2]; - - my $fh = new FileHandle; - my $fh2 = new FileHandle; - - $fh->open("<$links_file") or die "$0: can't open $links_file :$!\n"; - $fh2->open(">$clinks_file") or die "$0: can't write in the output: $clinks_file :$!\n"; - - print LOG "# $fchr : Defining precise link coordinates...\n"; - - my $record=0; - my $warn=100000; - - my %coords; - my %strands; - my %order; - my %ends_order; - - while(<$fh>){ - - - my ($col1,$col2)=(1,2); #for an intrachromosomal link - my $diffchr=0; #difference between chr1 and chr2 - my ($chr1,$chr2,$mates_list,$npairs)=(split)[0,3,7,8]; - ($chr1,$chr2) = ($chrID->{$chr1},$chrID->{$chr2}); - if ($chr1 != $chr2){ #for an interchromosomal link - $col1=$col2=0; #no distinction - $diffchr=1; - } - - my @pairs=split(",",$mates_list); - - $coords{$col1}{$chr1}->{start}=undef; - $coords{$col1}{$chr1}->{end}=undef; - $coords{$col2}{$chr2}->{start}=undef; - $coords{$col2}{$chr2}->{end}=undef; - $strands{$col1}{$chr1}=undef; - $strands{$col2}{$chr2}=undef; - $ends_order{$col1}{$chr1}=undef; - $ends_order{$col2}{$chr2}=undef; - - - $order{$col1}{$chr1}->{index}->{1}=undef; - $order{$col1}{$chr1}->{index}->{2}=undef; - $order{$col2}{$chr2}->{index}->{1}=undef; - $order{$col2}{$chr2}->{index}->{2}=undef; - $order{$col1}{$chr1}->{order}=undef; - $order{$col2}{$chr2}->{order}=undef; - - $record++; - - for my $p (0..$#pairs){ #for each pair - - my ($coord_start_read1,$coord_end_read1); - my ($coord_start_read2,$coord_end_read2); - my $strand_read1=recupCoords(${$$pair{$pairs[$p]}}[2],\$coord_start_read1,\$coord_end_read1,$tag_length->{${$$pair{$pairs[$p]}}[4]},$input_format); - my $strand_read2=recupCoords(${$$pair{$pairs[$p]}}[3],\$coord_start_read2,\$coord_end_read2,$tag_length->{${$$pair{$pairs[$p]}}[5]},$input_format); - - if(!$diffchr){ #for a intrachromosomal link - if($coord_start_read2<$coord_start_read1){ #get the closer start coordinate for each column - ($col1,$col2)=(2,1); - }else{ - ($col1,$col2)=(1,2); - } - } - - push(@{$coords{$col1}{${$$pair{$pairs[$p]}}[0]}->{start}},$coord_start_read1); #get coords and strands of f3 and r3 reads - push(@{$coords{$col1}{${$$pair{$pairs[$p]}}[0]}->{end}},$coord_end_read1); - push(@{$coords{$col2}{${$$pair{$pairs[$p]}}[1]}->{start}},$coord_start_read2); - push(@{$coords{$col2}{${$$pair{$pairs[$p]}}[1]}->{end}},$coord_end_read2); - push(@{$strands{$col1}{${$$pair{$pairs[$p]}}[0]}},$strand_read1); - push(@{$strands{$col2}{${$$pair{$pairs[$p]}}[1]}},$strand_read2); - push(@{$ends_order{$col1}{${$$pair{$pairs[$p]}}[0]}},${$$pair{$pairs[$p]}}[4]); - push(@{$ends_order{$col2}{${$$pair{$pairs[$p]}}[1]}},${$$pair{$pairs[$p]}}[5]); - } - - ($col1,$col2)=(1,2) if(!$diffchr); - - my $coord_start_chr1=min(min(@{$coords{$col1}{$chr1}->{start}}),min(@{$coords{$col1}{$chr1}->{end}})); #get the biggest region - my $coord_end_chr1=max(max(@{$coords{$col1}{$chr1}->{start}}),max(@{$coords{$col1}{$chr1}->{end}})); - my $coord_start_chr2=min(min(@{$coords{$col2}{$chr2}->{start}}),min(@{$coords{$col2}{$chr2}->{end}})); - my $coord_end_chr2=max(max(@{$coords{$col2}{$chr2}->{start}}),max(@{$coords{$col2}{$chr2}->{end}})); - - @{$order{$col1}{$chr1}->{index}->{1}}= sort {${$coords{$col1}{$chr1}->{start}}[$a] <=> ${$coords{$col1}{$chr1}->{start}}[$b]} 0 .. $#{$coords{$col1}{$chr1}->{start}}; - @{$order{$col2}{$chr2}->{index}->{1}}= sort {${$coords{$col2}{$chr2}->{start}}[$a] <=> ${$coords{$col2}{$chr2}->{start}}[$b]} 0 .. $#{$coords{$col2}{$chr2}->{start}}; - - foreach my $i (@{$order{$col1}{$chr1}->{index}->{1}}){ #get the rank of the chr2 reads according to the sorted chr1 reads (start coordinate sorting) - foreach my $j (@{$order{$col2}{$chr2}->{index}->{1}}){ - - if(${$order{$col1}{$chr1}->{index}->{1}}[$i] == ${$order{$col2}{$chr2}->{index}->{1}}[$j]){ - ${$order{$col1}{$chr1}->{index}->{2}}[$i]=$i; - ${$order{$col2}{$chr2}->{index}->{2}}[$i]=$j; - last; - } - } - } - - foreach my $i (@{$order{$col1}{$chr1}->{index}->{2}}){ #use rank chr1 as an ID - foreach my $j (@{$order{$col2}{$chr2}->{index}->{2}}){ - - if(${$order{$col1}{$chr1}->{index}->{2}}[$i] == ${$order{$col2}{$chr2}->{index}->{2}}[$j]){ - ${$order{$col1}{$chr1}->{order}}[$i]=$i+1; - ${$order{$col2}{$chr2}->{order}}[$i]=$j+1; - last; - } - } - } - - @pairs=sortTablebyIndex(\@{$order{$col1}{$chr1}->{index}->{1}},\@pairs);#sorting of the pairs, strands, and start coords from the sorted chr2 reads - @{$strands{$col1}{$chr1}}=sortTablebyIndex(\@{$order{$col1}{$chr1}->{index}->{1}},$strands{$col1}{$chr1}); - @{$strands{$col2}{$chr2}}=sortTablebyIndex(\@{$order{$col1}{$chr1}->{index}->{1}},$strands{$col2}{$chr2}); - @{$ends_order{$col1}{$chr1}}=sortTablebyIndex(\@{$order{$col1}{$chr1}->{index}->{1}},$ends_order{$col1}{$chr1}); - @{$ends_order{$col2}{$chr2}}=sortTablebyIndex(\@{$order{$col1}{$chr1}->{index}->{1}},$ends_order{$col2}{$chr2}); - @{$coords{$col1}{$chr1}->{start}}=sortTablebyIndex(\@{$order{$col1}{$chr1}->{index}->{1}},$coords{$col1}{$chr1}->{start}); - @{$coords{$col2}{$chr2}->{start}}=sortTablebyIndex(\@{$order{$col1}{$chr1}->{index}->{1}},$coords{$col2}{$chr2}->{start}); - - - my @link=($chr->{$chr1}->{name}, $coord_start_chr1 , $coord_end_chr1, #all information output - $chr->{$chr2}->{name}, $coord_start_chr2 , $coord_end_chr2, - scalar @pairs, - join(",",@pairs), - join(",",@{$strands{$col1}{$chr1}}), - join(",",@{$strands{$col2}{$chr2}}), - join(",",@{$ends_order{$col1}{$chr1}}), - join(",",@{$ends_order{$col2}{$chr2}}), - join(",",@{$order{$col1}{$chr1}->{order}}), - join(",",@{$order{$col2}{$chr2}->{order}}), - join(",",@{$coords{$col1}{$chr1}->{start}}), - join(",",@{$coords{$col2}{$chr2}->{start}})); - - print $fh2 join("\t",@link)."\n"; - - if($record>=$warn){ - print LOG "-- $fchr : $warn links processed\n"; - $warn+=100000; - } - } - $fh->close; - $fh2->close; - - print LOG "-- $fchr : Total : $record links processed\n"; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#Sort links according the concerned chromosomes and their coordinates -sub sortLinks{ - - my ($links_file,$sortedlinks_file,$unique)=@_; - - my @sfile=split(/\./,$links_file); - my $fchr=$sfile[$#sfile-2]; - - - print LOG "# $fchr : Sorting links...\n"; - - my $pipe=($unique)? "| sort -u":""; - system "sort -k 1,1 -k 4,4 -k 2,2n -k 5,5n -k 8,8n $links_file $pipe > $sortedlinks_file"; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#removal of fully overlapped links -sub removeFullyOverlappedLinks{ - - my ($links_file,$nrlinks_file,$warn_out)=@_; - - my %pt; - my $n=1; - - my @sfile=split(/\./,$links_file); - my $fchr=$sfile[$#sfile-2]; - - my $fh = new FileHandle; - - $fh->open("<$links_file") or die "$0: can't open $links_file :$!\n"; - while(<$fh>){ - - my @t=split("\t",$_); - $pt{$n}=[@t]; - $n++; - } - $fh->close; - - my $nb_links=$n-1; - my $nb=$nb_links; - - my %pt2; - my $nb2=1; - my $record=0; - my $warn=10000; - - print LOG "# $fchr : Removing fully overlapped links...\n"; - - LINK: - - for my $i (1..$nb){ - - my @link=(); - my @next_link=(); - my $ind1=$i; - - $record++; - if($record>=$warn){ - print LOG "-- $fchr : $warn unique links analysed - ".($nb2-1)." non-overlapped links done\n"; - $warn+=10000; - } - - if(exists $pt{$ind1}){ - @link=@{$pt{$ind1}}; #link1 - }else{ - next LINK; - } - - my ($chr1,$start1,$end1,$chr2,$start2,$end2)=($link[0],$link[1],$link[2],$link[3],$link[4],$link[5]); #get info of link1 - my @mates=deleteBadOrderSensePairs(split(",",$link[7])); - - my $ind2=$ind1+1; - $ind2++ while (!exists $pt{$ind2}&& $ind2<=$nb); #get the next found link - - if($ind2<=$nb){ - - @next_link=@{$pt{$ind2}}; #link2 - my ($chr3,$start3,$end3,$chr4,$start4,$end4)=($next_link[0],$next_link[1],$next_link[2],$next_link[3],$next_link[4],$next_link[5]); #get info of link2 - my @next_mates=deleteBadOrderSensePairs(split(",",$next_link[7])); - - while(($chr1 eq $chr3 && $chr2 eq $chr4) && overlap($start1,$end1,$start3,$end3)){ #loop here according to the chr1 coordinates, need an overlap between links to enter - - if(!overlap($start2,$end2,$start4,$end4)){ #if no overlap with chr2 coordinates ->next link2 - - $ind2++; - $ind2++ while (!exists $pt{$ind2}&& $ind2<=$nb); - - if($ind2>$nb){ #if no more link in the file -> save link1 - - $pt2{$nb2}=\@link; - $nb2++; - next LINK; - } - - @next_link=@{$pt{$ind2}}; - ($chr3,$start3,$end3,$chr4,$start4,$end4)=($next_link[0],$next_link[1],$next_link[2],$next_link[3],$next_link[4],$next_link[5]); - @next_mates=deleteBadOrderSensePairs(split(",",$next_link[7])); - next; - } - - my %mates=map{$_ =>1} @mates; #get the equal number of mates - my @same_mates = grep( $mates{$_}, @next_mates ); - my $nb_mates= scalar @same_mates; - - if($nb_mates == scalar @mates){ - - delete $pt{$ind1}; #if pairs of link 1 are all included in link 2 -> delete link1 - next LINK; #go to link2, link2 becomes link1 - - }else{ - delete $pt{$ind2} if($nb_mates == scalar @next_mates); #if pairs of link2 are all included in link 1 -> delete link2 - $ind2++; #we continue by checking the next link2 - $ind2++ while (!exists $pt{$ind2}&& $ind2<=$nb); - - if($ind2>$nb){ #if no more link in the file -> save link1 - - $pt2{$nb2}=\@link; - $nb2++; - next LINK; - } - - @next_link=@{$pt{$ind2}}; #get info of link2 - ($chr3,$start3,$end3,$chr4,$start4,$end4)=($next_link[0],$next_link[1],$next_link[2],$next_link[3],$next_link[4],$next_link[5]); - @next_mates=deleteBadOrderSensePairs(split(",",$next_link[7])); - - } - } - } - $pt2{$nb2}=\@link; #if no (more) link with chr1 coordinates overlap -> save link1 - $nb2++; - } - - print LOG "-- $fchr : Total : $nb_links unique links analysed - ".($nb2-1)." non-overlapped links done\n"; - - #OUTPUT - - $fh = new FileHandle; - $fh->open(">$nrlinks_file") or die "$0: can't write in the output: $nrlinks_file :$!\n"; - print LOG "-- $fchr : writing...\n"; - for my $i (1..$nb2-1){ - - print $fh join("\t",@{$pt2{$i}}); #all links output - } - - close $fh; - - print LOG "-- $fchr : output created: $nrlinks_file\n" if($warn_out); - - undef %pt; - undef %pt2; -} -#------------------------------------------------------------------------------# -sub postFiltering { - - my ($links_file,$pflinks_file, $finalScore_thres)=@_; - - my @sfile=split(/\./,$links_file); - my $fchr=$sfile[$#sfile-2]; - - - my ($nb,$nb2)=(0,0); - - print LOG "# $fchr : Post-filtering links...\n"; - print LOG "-- $fchr : final score threshold = $finalScore_thres\n"; - - my $fh = new FileHandle; - my $fh2 = new FileHandle; - - $fh->open("<$links_file") or die "$0: can't open $links_file :$!\n"; - $fh2->open(">$pflinks_file") or die "$0: can't write in the output: $pflinks_file :$!\n"; - - - while(<$fh>){ - - my @t=split("\t",$_); - my $score=$t[$#t-1]; - - if($score >= $finalScore_thres){ - print $fh2 join("\t", @t); - $nb2++; - } - $nb++; - } - $fh->close; - $fh2->close; - - print LOG "-- $fchr : Total : $nb unique links analysed - $nb2 links kept\n"; - print LOG "-- $fchr : output created: $pflinks_file\n"; -} - - - -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#Filtering of the links -sub strandFiltering{ - - my($chr,$chrID,$pairs_threshold,$strand_filtering,$chromosomes, - $input_format,$cmap_file,$mate_sense, $tag_length,$links_file,$flinks_file)=@_; - - my @sfile=split(/\./,$links_file); - my $fchr=$sfile[$#sfile-1]; - - - my %chrs; - my %chrs1; - my %chrs2; - my $nb_chrs; - my $exclude; - - if($chromosomes){ - my @chrs=split(",",$chromosomes); - $nb_chrs=scalar @chrs; - $exclude=($chrs[0]=~/^\-/)? 1:0; - for my $chrName (@chrs){ - $chrName=~s/^(\-)//; - my $col=($chrName=~s/_(1|2)$//); - - if(!$col){ - $chrs{$chrID->{$chrName}}=undef - }else{ - $chrs1{$chrID->{$chrName}}=undef if($1==1); - $chrs2{$chrID->{$chrName}}=undef if($1==2); - } - } - } - - my $record=0; - my $nb_links=0; - my $warn=10000; - - my $sens_ratio_threshold=0.6; - - print LOG "\# Filtering procedure...\n"; - print LOG "\# Number of pairs and strand filtering...\n"; - print LOG "-- file=$links_file\n"; - print LOG "-- nb_pairs_threshold=$pairs_threshold, strand_filtering=".(($strand_filtering)? "yes":"no"). - ", chromosomes=".(($chromosomes)? "$chromosomes":"all")."\n"; - - - - my $fh = new FileHandle; - my $fh2 = new FileHandle; - - $fh->open("<$links_file") or die "$0: can't open $links_file :$!\n"; - $fh2->open(">$flinks_file") or die "$0: can't write in the output: $flinks_file :$!\n"; - - while(<$fh>){ - - my @t=split; #for each link - my $is_good=1; - $record++; - - - if($chromosomes){ - - my ($chr1,$chr2)=($chrID->{$t[0]},$chrID->{$t[3]}); - - if(!$exclude){ - $is_good=(exists $chrs{$chr1} && exists $chrs{$chr2})? 1:0; - $is_good=(exists $chrs1{$chr1} && exists $chrs2{$chr2})? 1:0 if(!$is_good); - $is_good=($nb_chrs==1 && (exists $chrs1{$chr1} || exists $chrs2{$chr2}))? 1:0 if(!$is_good); - }else{ - $is_good=(exists $chrs{$chr1} || exists $chrs{$chr2})? 0:1; - $is_good=(exists $chrs1{$chr1} || exists $chrs2{$chr2})? 0:1 if($is_good); - } - } - - $is_good = ($is_good && $t[6] >= $pairs_threshold)? 1 :0; #filtering according the number of pairs - if($is_good && $strand_filtering){ #if filtering according the strand sense - - my @mates=split(/,/,$t[7]); #get the concordant pairs in the strand sense - my @strands1=split(/,/,$t[8]); - my @strands2=split(/,/,$t[9]); - - my %mate_class=( 'FF' => 0, 'RR' => 0, 'FR' => 0, 'RF' => 0); - - my %mate_reverse=( 'FF' => 'RR', 'RR' => 'FF', #group1: FF,RR - 'FR' => 'RF', 'RF' => 'FR'); #group2: FR,RF - - my %mate_class2=( $mate_sense=>"NORMAL_SENSE", inverseSense($mate_sense)=>"NORMAL_SENSE", - substr($mate_sense,0,1).inverseSense(substr($mate_sense,1,1))=>"REVERSE_SENSE", - inverseSense(substr($mate_sense,0,1)).substr($mate_sense,1,1)=>"REVERSE_SENSE"); - - if($t[6] == 1){ - - push(@t,$mate_class2{$strands1[0].$strands2[0]},"1/1",1,1); - - }else{ - - tie (my %class,'Tie::IxHash'); - my $split; - - foreach my $i (0..$#mates){ - $mate_class{$strands1[$i].$strands2[$i]}++; #get the over-represented group - } - - my $nb_same_sens_class=$mate_class{FF}+$mate_class{RR}; - my $nb_diff_sens_class=$mate_class{FR}+$mate_class{RF}; - my $sens_ratio=max($nb_same_sens_class,$nb_diff_sens_class)/($nb_same_sens_class+$nb_diff_sens_class); - - if($sens_ratio < $sens_ratio_threshold){ - %class=(1=>'FF', 2=>'FR'); - $split=1; - }else{ - $class{1}=($nb_same_sens_class > $nb_diff_sens_class)? 'FF':'FR'; #if yes get the concerned class - $split=0; - } - - $is_good=getConsistentSenseLinks(\@t,\@mates,\@strands1,\@strands2,$tag_length,$mate_sense,\%mate_reverse,\%mate_class2,\%class,$split,$pairs_threshold); - } - } - - if($is_good){ #PRINT - - my $nb=scalar @t; - if($nb > 20){ - my @t2=splice(@t,0,20); - print $fh2 join("\t",@t2)."\n"; - $nb_links++; - } - $nb_links++; - print $fh2 join("\t",@t)."\n"; - } - - if($record>=$warn){ - print LOG "-- $fchr : $warn links analysed - $nb_links links kept\n"; - $warn+=10000; - } - } - $fh->close; - $fh2->close; - - print LOG "-- $fchr : No links have been found with the selected filtering parameters\n" if(!$nb_links); - - print LOG "-- $fchr : Total : $record links analysed - $nb_links links kept\n"; - - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub getConsistentSenseLinks{ - - my ($t,$mates,$strands1,$strands2,$tag_length,$mate_sense, $mate_reverse,$mate_class2, $class, $split,$thres)=@_; - - my $npairs=scalar @$mates; - - my @ends_order1 = split (/,/,$$t[10]); - my @ends_order2 = split (/,/,$$t[11]); - my @order1 = split (/,/,$$t[12]); - my @order2 = split (/,/,$$t[13]); - my @positions1 = split (/,/,$$t[14]); - my @positions2 = split (/,/,$$t[15]); - - my @newlink; - - foreach my $ind (keys %{$class} ){ - - tie (my %flink,'Tie::IxHash'); - my @orders2remove=(); - - foreach my $i (0..$#{$mates}){ #get the pairs belonging the over-represented group - - if((($$strands1[$i].$$strands2[$i]) eq $$class{$ind}) || (($$strands1[$i].$$strands2[$i]) eq $$mate_reverse{$$class{$ind}})){ - push(@{$flink{mates}},$$mates[$i]); - push(@{$flink{strands1}},$$strands1[$i]); - push(@{$flink{strands2}},$$strands2[$i]); - push(@{$flink{ends_order1}},$ends_order1[$i]); - push(@{$flink{ends_order2}},$ends_order2[$i]); - push(@{$flink{positions1}},$positions1[$i]); - push(@{$flink{positions2}},$positions2[$i]); - - }else{ - push(@orders2remove,$order1[$i]); - } - } - - @{$flink{order1}}=(); - @{$flink{order2}}=(); - if(scalar @orders2remove > 0){ - getNewOrders(\@order1,\@order2,\@orders2remove,$flink{order1},$flink{order2}) - }else{ - @{$flink{order1}}=@order1; - @{$flink{order2}}=@order2; - } - - my @ends1; getEnds(\@ends1,$flink{positions1},$flink{strands1},$flink{ends_order1},$tag_length); - my @ends2; getEnds(\@ends2,$flink{positions2},$flink{strands2},$flink{ends_order2},$tag_length); - - my $fnpairs=scalar @{$flink{mates}}; - my $strand_filtering_ratio=$fnpairs."/".$npairs; - my $real_ratio=$fnpairs/$npairs; - - if($fnpairs>=$thres){ #filtering according the number of pairs - - push(@newlink, - $$t[0], - min(min(@{$flink{positions1}}),min(@ends1)), - max(max(@{$flink{positions1}}),max(@ends1)), - $$t[3], - min(min(@{$flink{positions2}}),min(@ends2)), - max(max(@{$flink{positions2}}),max(@ends2)), - $fnpairs, - join(",",@{$flink{mates}}), - join(",",@{$flink{strands1}}), - join(",",@{$flink{strands2}}), - join(",",@{$flink{ends_order1}}), - join(",",@{$flink{ends_order2}}), - join(",",@{$flink{order1}}), - join(",",@{$flink{order2}}), - join(",",@{$flink{positions1}}), - join(",",@{$flink{positions2}}), - $$mate_class2{${$flink{strands1}}[0].${$flink{strands2}}[0]}, - $strand_filtering_ratio, - $real_ratio, - $npairs - ); - } - } - - if (grep {defined($_)} @newlink) { - @$t=@newlink; - return 1 - } - return 0; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub getNewOrders{ - - my($tab1,$tab2,$list,$newtab1,$newtab2)=@_; - my $j=1; - my $k=1; - for my $i (0..$#{$tab2}){ - my $c=0; - for my $j (0..$#{$list}){ - $c++ if(${$list}[$j] < ${$tab2}[$i]); - if(${$list}[$j] == ${$tab2}[$i]){ - $c=-1; last; - } - } - if($c!=-1){ - push(@{$newtab2}, ${$tab2}[$i]-$c); - push(@{$newtab1}, $k); - $k++; - } - } -} - -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#Filtering of the links using their order -sub orderFiltering { - - my ($chr,$chrID,$nb_pairs_threshold,$nb_pairs_order_threshold,$mu,$sigma,$mate_sense,$tag_length,$links_file,$flinks_file)=@_; - - my @sfile=split(/\./,$links_file); - my $fchr=$sfile[$#sfile-2]; - - - my $diff_sense_ends=(($mate_sense eq "FR") || ($mate_sense eq "RF"))? 1:0; - - my $record=0; - my $warn=10000; - my $nb_links=0; - - my $quant05 = 1.644854; - my $quant001 = 3.090232; - my $alphaDist = $quant05 * 2 * $sigma; - my $maxFragmentLength = &floor($quant001 * $sigma + $mu); - - print LOG "\# Filtering by order...\n"; - print LOG "-- mu length=$mu, sigma length=$sigma, nb pairs order threshold=$nb_pairs_order_threshold\n"; - print LOG "-- distance between comparable pairs was set to $alphaDist\n"; - print LOG "-- maximal fragment length was set to $maxFragmentLength\n"; - - - my $fh = new FileHandle; - my $fh2 = new FileHandle; - - $fh->open("<$links_file") or die "$0: can't open $links_file :$!\n"; - $fh2->open(">$flinks_file") or die "$0: can't write in the output: $flinks_file :$!\n"; - - while(<$fh>){ - - $record++; - my @t = split; - my ($chr1,$chr2,$mates_list)=@t[0,3,7]; - my @pairs=split(",",$mates_list); - ($chr1,$chr2) = ($chrID->{$chr1},$chrID->{$chr2}); - my ($coord_start_chr1,$coord_end_chr1,$coord_start_chr2,$coord_end_chr2) = @t[1,2,4,5]; - my $numberOfPairs = $t[6]; - my @strand1 = split (/,/,$t[8]); - my @strand2 = split (/,/,$t[9]); - my @ends_order1 = split (/,/,$t[10]); - my @ends_order2 = split (/,/,$t[11]); - my @order1 = split (/,/,$t[12]); - my @order2 = split (/,/,$t[13]); - my @positions1 = split (/,/,$t[14]); - my @positions2 = split (/,/,$t[15]); - my @ends1; getEnds(\@ends1,\@positions1,\@strand1,\@ends_order1,$tag_length); - my @ends2; getEnds(\@ends2,\@positions2,\@strand2,\@ends_order2,$tag_length); - my $clusterCoordinates_chr1; - my $clusterCoordinates_chr2; - my $reads_left = 0; - - my $ifRenv = $t[16]; - my $strand_ratio_filtering=$t[17]; - - #kind of strand filtering. For example, will keep only FFF-RRR from a link FFRF-RRRF if <F-R> orientation is correct - my ($singleBreakpoint, %badInFRSense) = findBadInFRSenseSOLiDSolexa(\@strand1,\@strand2,\@ends_order1,\@ends_order2,\@order1,\@order2,$mate_sense); - #find pairs type F-RRRR or FFFF-R in the case if <R-F> orientation is correct - #These pairs are annotated as BED pairs forever! They won't be recycled! - my $table; - for my $i (0..$numberOfPairs-1) { #fill the table with non adequate pairs: pairID numberOfNonAdPairs nonAdPairIDs - my $nonAdeq = 0; - for my $j (0..$i-1) { - if (exists($table->{$j}->{$i})) { - $nonAdeq++; - $table->{$i}->{$j} = 1; - } - } - for my $j ($i+1..$numberOfPairs-1) { - if ($positions1[$j]-$positions1[$i]>$alphaDist) { - if (&reversed ($i,$j,$ifRenv,\@positions2)) { - $nonAdeq++; - $table->{$i}->{$j} = 1; - } - } - } - $table->{$i}->{nonAdeq} = $nonAdeq; - } - - for my $bad (keys %badInFRSense) { #remove pairs type F-RRRR or FFFF-R in the case of <R-F> orientation - &remove($bad,$table); - } - - my @falseReads; - #RRRR-F -> RRRR or R-FFFF -> FFFF - @falseReads = findBadInRFSenseSOLiDSolexa(\@strand1,\@ends_order1,$mate_sense, keys %{$table}); - #these pairs will be recycled later as $secondTable - for my $bad (@falseReads) { - &remove($bad,$table); - } - - my $bad = &check($table); - while ($bad ne "OK") { #clear the table to reject non adequate pairs in the sense of ORDER - # push (@falseReads, $bad); remove completely!!! - &remove($bad,$table); - $bad = &check($table); - } - - $reads_left = scalar keys %{$table}; - my $coord_start_chr1_cluster1 = min(min(@positions1[sort {$a<=>$b} keys %{$table}]),min(@ends1[sort {$a<=>$b} keys %{$table}])); - my $coord_end_chr1_cluster1 = max(max(@positions1[sort {$a<=>$b} keys %{$table}]),max(@ends1[sort {$a<=>$b} keys %{$table}])); - my $coord_start_chr2_cluster1 = min(min(@positions2[sort {$a<=>$b} keys %{$table}]),min(@ends2[sort {$a<=>$b} keys %{$table}])); - my $coord_end_chr2_cluster1 = max(max(@positions2[sort {$a<=>$b} keys %{$table}]),max(@ends2[sort {$a<=>$b} keys %{$table}])); - - $clusterCoordinates_chr1 = '('.$coord_start_chr1_cluster1.','.$coord_end_chr1_cluster1.')'; - $clusterCoordinates_chr2 = '('.$coord_start_chr2_cluster1.','.$coord_end_chr2_cluster1.')'; - - my $ifBalanced = 'UNBAL'; - my $secondTable; - my $clusterCoordinates; - my ($break_pont_chr1,$break_pont_chr2); - - my $signatureType=""; - - my $maxCoord1 =$chr->{$chr1}->{length}; - my $maxCoord2 =$chr->{$chr2}->{length}; - - if (scalar @falseReads) { - @falseReads = sort @falseReads; - #now delete FRFR choosing the majority - my @newfalseReads; #find and remove pairs type RRRR-F or R-FFFF - @newfalseReads = findBadInRFSenseSOLiDSolexa(\@strand1,\@ends_order1,$mate_sense,@falseReads); #these @newfalseReads won't be recycled - my %hashTmp; - for my $count1 (0..scalar(@falseReads)-1) { - my $i = $falseReads[$count1]; - $hashTmp{$i} = 1; - for my $bad (@newfalseReads) { - if ($bad == $i) { - delete $hashTmp{$i}; - next; - } - } - } - @falseReads = sort keys %hashTmp; #what is left - for my $count1 (0..scalar(@falseReads)-1) { #fill the table for reads which were previously rejected - my $nonAdeq = 0; - my $i = $falseReads[$count1]; - - for my $count2 (0..$count1-1) { - my $j = $falseReads[$count2]; - if (exists($secondTable->{$j}->{$i})) { - $nonAdeq++; - $secondTable->{$i}->{$j} = 1; - } - } - for my $count2 ($count1+1..scalar(@falseReads)-1) { - my $j = $falseReads[$count2]; - if ($positions1[$j]-$positions1[$i]>$alphaDist) { - if (&reversed ($i,$j,$ifRenv,\@positions2)) { - $nonAdeq++; - $secondTable->{$i}->{$j} = 1; - } - } - } - $secondTable->{$i}->{nonAdeq} = $nonAdeq; - } - - my @falseReads2; - my $bad = &check($secondTable); - while ($bad ne "OK") { #clear the table to reject non adequate pairs - push (@falseReads2, $bad); - &remove($bad,$secondTable); - $bad = &check($secondTable); - } - if (scalar keys %{$secondTable} >= $nb_pairs_order_threshold) { - my $coord_start_chr1_cluster2 = min(min(@positions1[sort {$a<=>$b} keys %{$secondTable}]),min(@ends1[sort {$a<=>$b} keys %{$secondTable}])); - my $coord_end_chr1_cluster2 = max(max(@positions1[sort {$a<=>$b} keys %{$secondTable}]),max(@ends1[sort {$a<=>$b} keys %{$secondTable}])); - my $coord_start_chr2_cluster2 = min(min(@positions2[sort {$a<=>$b} keys %{$secondTable}]),min(@ends2[sort {$a<=>$b} keys %{$secondTable}])); - my $coord_end_chr2_cluster2 = max(max(@positions2[sort {$a<=>$b} keys %{$secondTable}]),max(@ends2[sort {$a<=>$b} keys %{$secondTable}])); - - $ifBalanced = 'BAL'; - - if ($ifBalanced eq 'BAL') { - - if (scalar keys %{$table} < $nb_pairs_order_threshold) { - $ifBalanced = 'UNBAL'; #kill cluster 1! - ($table,$secondTable)=($secondTable,$table); #this means that one needs to exchange cluster1 with cluster2 - $reads_left = scalar keys %{$table}; - $coord_start_chr1_cluster1 = $coord_start_chr1_cluster2; - $coord_end_chr1_cluster1 = $coord_end_chr1_cluster2; - $coord_start_chr2_cluster1 = $coord_start_chr2_cluster2; - $coord_end_chr2_cluster1 = $coord_end_chr2_cluster2; - $clusterCoordinates_chr1 = '('.$coord_start_chr1_cluster1.','.$coord_end_chr1_cluster1.')'; - $clusterCoordinates_chr2 = '('.$coord_start_chr2_cluster1.','.$coord_end_chr2_cluster1.')'; - - } else { - - $reads_left += scalar keys %{$secondTable}; - next if ($reads_left < $nb_pairs_threshold); - - if ($coord_end_chr1_cluster2 < $coord_start_chr1_cluster1) { - ($table,$secondTable)=($secondTable,$table); #this means that one needs to exchange cluster1 with cluster2 - - ($coord_start_chr1_cluster1,$coord_start_chr1_cluster2) = ($coord_start_chr1_cluster2,$coord_start_chr1_cluster1); - ($coord_end_chr1_cluster1,$coord_end_chr1_cluster2)=($coord_end_chr1_cluster2,$coord_end_chr1_cluster1); - ($coord_start_chr2_cluster1,$coord_start_chr2_cluster2)=($coord_start_chr2_cluster2,$coord_start_chr2_cluster1); - ($coord_end_chr2_cluster1 , $coord_end_chr2_cluster2)=($coord_end_chr2_cluster2 , $coord_end_chr2_cluster1); - - $clusterCoordinates_chr1 = '('.$coord_start_chr1_cluster1.','.$coord_end_chr1_cluster1.'),'.$clusterCoordinates_chr1; - $clusterCoordinates_chr2 = '('.$coord_start_chr2_cluster1.','.$coord_end_chr2_cluster1.'),'.$clusterCoordinates_chr2; - }else { - $clusterCoordinates_chr1 .= ',('.$coord_start_chr1_cluster2.','.$coord_end_chr1_cluster2.')'; - $clusterCoordinates_chr2 .= ',('.$coord_start_chr2_cluster2.','.$coord_end_chr2_cluster2.')'; - } - $coord_start_chr1 = min($coord_start_chr1_cluster1,$coord_start_chr1_cluster2); - $coord_end_chr1 = max($coord_end_chr1_cluster1,$coord_end_chr1_cluster2); - $coord_start_chr2 = min($coord_start_chr2_cluster1,$coord_start_chr2_cluster2); - $coord_end_chr2 = max($coord_end_chr2_cluster1,$coord_end_chr2_cluster2); - #to calculate breakpoints one need to take into account read orientation in claster.. - my $leftLetterOk = substr($mate_sense, 0, 1); #R - my $rightLetterOk = substr($mate_sense, 1, 1); #F - - - my @index1 = keys %{$table}; - my @index2 = keys %{$secondTable}; - - my (@generalStrand1,@generalStrand2) = 0; - - if ($leftLetterOk eq $rightLetterOk) { #SOLID mate-pairs - $leftLetterOk = 'R'; - $rightLetterOk = 'F'; - @generalStrand1 = translateSolidToRF(\@strand1,\@ends_order1); - @generalStrand2 = translateSolidToRF(\@strand2,\@ends_order2); - } else { - @generalStrand1 = @strand1; - @generalStrand2 = @strand2; # TODO check if it is correct - } - if ($generalStrand1[$index1[0]] eq $leftLetterOk && $generalStrand1[$index2[0]] eq $rightLetterOk) { #(R,F) - $break_pont_chr1 = '('.$coord_end_chr1_cluster1.','.$coord_start_chr1_cluster2.')'; - - if ($generalStrand2[$index1[0]] eq $rightLetterOk && $generalStrand2[$index2[0]] eq $leftLetterOk) { - if ($coord_end_chr2_cluster1 >= $coord_end_chr2_cluster2) { - $break_pont_chr2 = '('.$coord_end_chr2_cluster2.','.$coord_start_chr2_cluster1.')'; - $signatureType = "TRANSLOC"; - } else { - $break_pont_chr2 = '('.max(($coord_end_chr2_cluster1-$maxFragmentLength),1).','.$coord_start_chr2_cluster1.')'; - $break_pont_chr2 .= ',('.$coord_end_chr2_cluster2.','.min(($coord_start_chr2_cluster2+$maxFragmentLength),$maxCoord2).')'; - $signatureType = "INS_FRAGMT"; - } - - } elsif ($generalStrand2[$index1[0]] eq $leftLetterOk && $generalStrand2[$index2[0]] eq $rightLetterOk) { - if ($coord_end_chr2_cluster1 >= $coord_end_chr2_cluster2) { - $break_pont_chr2 = '('.max(($coord_end_chr2_cluster2-$maxFragmentLength),1).','.$coord_start_chr2_cluster2.')'; - $break_pont_chr2 .= ',('.$coord_end_chr2_cluster1.','.min(($coord_start_chr2_cluster1+$maxFragmentLength),$maxCoord2).')'; - $signatureType = "INV_INS_FRAGMT"; - } else { - $break_pont_chr2 = '('.$coord_end_chr2_cluster1.','.$coord_start_chr2_cluster2.')'; - $signatureType = "INV_TRANSLOC"; - } - } else { - #should not occur - print STDERR "\nError in orderFiltering\n\n"; - } - } - - elsif ($generalStrand1[$index1[0]] eq $rightLetterOk && $generalStrand1[$index2[0]] eq $leftLetterOk) { #(F,R) - $break_pont_chr1 = '('.max(($coord_end_chr1_cluster1-$maxFragmentLength),1).','.$coord_start_chr1_cluster1.')'; - $break_pont_chr1 .= ',('.$coord_end_chr1_cluster2.','.min(($coord_start_chr1_cluster2+$maxFragmentLength),$maxCoord1).')'; - if ($generalStrand2[$index1[0]] eq $rightLetterOk && $generalStrand2[$index2[0]] eq $leftLetterOk) { - if ($coord_end_chr2_cluster1 >= $coord_end_chr2_cluster2) { - $break_pont_chr2 = '('.$coord_end_chr2_cluster2.','.$coord_start_chr2_cluster1.')'; - $signatureType = "INV_INS_FRAGMT"; - } else { - $break_pont_chr2 = '('.max(($coord_end_chr2_cluster1-$maxFragmentLength),1).','.$coord_start_chr2_cluster1.')'; - $break_pont_chr2 .= ',('.$coord_end_chr2_cluster2.','.min(($coord_start_chr2_cluster2+$maxFragmentLength),$maxCoord2).')'; - $signatureType = "INV_COAMPLICON"; - } - - } elsif ($generalStrand2[$index1[0]] eq $leftLetterOk && $generalStrand2[$index2[0]] eq $rightLetterOk) { - if ($coord_end_chr2_cluster1 >= $coord_end_chr2_cluster2) { - $break_pont_chr2 = '('.max(($coord_end_chr2_cluster2-$maxFragmentLength),1).','.$coord_start_chr2_cluster2.')'; - $break_pont_chr2 .= ',('.$coord_end_chr2_cluster1.','.min(($coord_start_chr2_cluster1+$maxFragmentLength),$maxCoord2).')'; - $signatureType = "COAMPLICON"; - } else { - $break_pont_chr2 = '('.$coord_end_chr2_cluster1.','.$coord_start_chr2_cluster2.')'; - $signatureType = "INS_FRAGMT"; - } - } else { - #should not occur - $signatureType = "UNDEFINED"; - } - } - else { # (F,F) or (R,R) something strange. We will discard the smallest cluster - $ifBalanced = 'UNBAL'; - if (scalar keys %{$secondTable} > scalar keys %{$table}) { - ($table,$secondTable)=($secondTable,$table); #this means that one needs to exchange cluster1 with cluster2 - - $coord_start_chr1_cluster1 = $coord_start_chr1_cluster2; - $coord_end_chr1_cluster1 = $coord_end_chr1_cluster2; - $coord_start_chr2_cluster1 = $coord_start_chr2_cluster2; - $coord_end_chr2_cluster1 = $coord_end_chr2_cluster2; - $clusterCoordinates_chr1 = '('.$coord_start_chr1_cluster1.','.$coord_end_chr1_cluster1.')'; - $clusterCoordinates_chr2 = '('.$coord_start_chr2_cluster1.','.$coord_end_chr2_cluster1.')'; - } - $reads_left = scalar keys %{$table}; - } - if ($ifBalanced eq 'BAL') { - $ifRenv = $signatureType; - } - } - } - } - } - if ($ifBalanced ne 'BAL') { - #define possible break point - $coord_start_chr1 = $coord_start_chr1_cluster1; - $coord_end_chr1 = $coord_end_chr1_cluster1; - $coord_start_chr2 = $coord_start_chr2_cluster1; - $coord_end_chr2 = $coord_end_chr2_cluster1; - - my $region_length_chr1 = $coord_end_chr1-$coord_start_chr1; - my $region_length_chr2 = $coord_end_chr2-$coord_start_chr2; - - my $leftLetterOk = substr($mate_sense, 0, 1); #R - my $rightLetterOk = substr($mate_sense, 1, 1); #F - - my @index = keys %{$table}; - unless ($diff_sense_ends) { - my $firstEndOrder1 = $ends_order1[$index[0]]; - my $firstEndOrder2 = $ends_order2[$index[0]]; - $break_pont_chr1 = (($strand1[$index[0]] eq 'R' && $firstEndOrder1 == 2) || ($strand1[$index[0]] eq 'F' && $firstEndOrder1 == 1))?'('.$coord_end_chr1.','.min(($coord_start_chr1+$maxFragmentLength),$maxCoord1).')':'('.max(($coord_end_chr1-$maxFragmentLength),1).','.$coord_start_chr1.')'; - $break_pont_chr2 = (($strand2[$index[0]] eq 'R' && $firstEndOrder2 == 2) || ($strand2[$index[0]] eq 'F' && $firstEndOrder2 == 1))?'('.$coord_end_chr2.','.min(($coord_start_chr2+$maxFragmentLength),$maxCoord2).')':'('.max(($coord_end_chr2-$maxFragmentLength),1).','.$coord_start_chr2.')'; - } else { - $break_pont_chr1 = ($strand1[$index[0]] eq $leftLetterOk )?'('.$coord_end_chr1.','.min(($coord_start_chr1+$maxFragmentLength),$maxCoord1).')':'('.max(($coord_end_chr1-$maxFragmentLength),1).','.$coord_start_chr1.')'; - $break_pont_chr2 = ($strand2[$index[0]] eq $leftLetterOk )?'('.$coord_end_chr2.','.min(($coord_start_chr2+$maxFragmentLength),$maxCoord2).')':'('.max(($coord_end_chr2-$maxFragmentLength),1).','.$coord_start_chr2.')'; - } - - if ($chr1 ne $chr2){ - $ifRenv="INV_TRANSLOC" if($ifRenv eq "REVERSE_SENSE"); - $ifRenv="TRANSLOC" if($ifRenv eq "NORMAL_SENSE"); - } - } - - if (($ifBalanced eq 'BAL')&&( (scalar keys %{$table}) + (scalar keys %{$secondTable}) < $nb_pairs_threshold)) { - next; #discard the link - } - if (($ifBalanced eq 'UNBAL')&&(scalar keys %{$table} < $nb_pairs_threshold)) { - next; #discard the link - } - my $ratioTxt = "$reads_left/".(scalar @pairs); - my ($n1,$nTot) = split ("/",$strand_ratio_filtering); - my $ratioReal = $reads_left/$nTot; - - if ($coord_start_chr1<=0) { - $coord_start_chr1=1; - } - if ($coord_start_chr2<=0) { - $coord_start_chr2=1; - } - #create output - my @link=($chr->{$chr1}->{name}, $coord_start_chr1 , $coord_end_chr1, #all information output - $chr->{$chr2}->{name}, $coord_start_chr2 , $coord_end_chr2, - $reads_left, - &redraw(1,$table,$secondTable,\%badInFRSense,$ifBalanced,\@pairs), - &redraw(1,$table,$secondTable,\%badInFRSense,$ifBalanced,\@strand1), - &redraw(1,$table,$secondTable,\%badInFRSense,$ifBalanced,\@strand2), - &redraw(1,$table,$secondTable,\%badInFRSense,$ifBalanced,\@ends_order1), - &redraw(1,$table,$secondTable,\%badInFRSense,$ifBalanced,\@ends_order2), - &redraw(2,$table,$secondTable,\%badInFRSense,$ifBalanced,\@order1), - &redraw(2,$table,$secondTable,\%badInFRSense,$ifBalanced,\@order2), - &redraw(1,$table,$secondTable,\%badInFRSense,$ifBalanced,\@positions1), - &redraw(1,$table,$secondTable,\%badInFRSense,$ifBalanced,\@positions2), - $ifRenv, - $strand_ratio_filtering, - $ifBalanced, $ratioTxt, $break_pont_chr1, $break_pont_chr2, - $ratioReal, $nTot); - - $nb_links++; - print $fh2 join("\t",@link)."\n"; - - if($record>=$warn){ - print LOG "-- $fchr : $warn links analysed - $nb_links links kept\n"; - $warn+=10000; - } - - } - $fh->close; - $fh2->close; - - print LOG "-- $fchr : Total : $record links analysed - $nb_links links kept\n"; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#gets information about ends positions given start, direction and order -sub getEnds { - my ($ends,$starts,$strand,$end_order,$tag_length) = @_; - for my $i (0..scalar(@{$starts})-1) { - $ends->[$i] = getEnd($starts->[$i],$strand->[$i],$end_order->[$i],$tag_length); - } -} -sub getEnd { - my ($start,$strand, $end_order,$tag_length) = @_; - return ($strand eq 'F')? $start+$tag_length->{$end_order}-1:$start-$tag_length->{$end_order}+1; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#gets starts and ends Coords when start=leftmost given positions, directions and orders -sub getCoordswithLeftMost { - - my ($starts,$ends,$positions,$strand,$end_order,$tag_length) = @_; - - for my $i (0..scalar(@{$positions})-1) { - - if($strand->[$i] eq 'F'){ - $starts->[$i]=$positions->[$i]; - $ends->[$i]=$positions->[$i]+$tag_length->{$end_order->[$i]}-1; - }else{ - $starts->[$i]=$positions->[$i]-$tag_length->{$end_order->[$i]}+1; - $ends->[$i]=$positions->[$i]; - } - } -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub addInsertionInfo { #add field with INS,DEL,NA and distance between clusters and performs filtering - - my ($chr,$chrID,$nb_pairs_threshold,$order_filtering,$indel_sigma_threshold,$dup_sigma_threshold,$singleton_sigma_threshold,$mu,$sigma,$mate_sense,$tag_length,$links_file,$flinks_file)=@_; - - my @sfile=split(/\./,$links_file); - my $fchr=$sfile[$#sfile-2]; - - - my $diff_sense_ends=(($mate_sense eq "FR") || ($mate_sense eq "RF"))? 1:0; - - my $record=0; - my $nb_links=0; - my $warn=10000; - - print LOG "\# Filtering out normal pairs using insert size...\n"; - print LOG "-- mu length=$mu, sigma length=$sigma, indel sigma threshold=$indel_sigma_threshold, dup sigma threshold=$dup_sigma_threshold\n"; - print LOG "-- using ".($mu-$indel_sigma_threshold*$sigma)."-". - ($mu+$indel_sigma_threshold*$sigma)." as normal range of insert size for indels\n"; - print LOG "-- using ".($mu-$dup_sigma_threshold*$sigma)."-". - ($mu+$dup_sigma_threshold*$sigma)." as normal range of insert size for duplications\n"; - print LOG "-- using ".($mu-$singleton_sigma_threshold*$sigma)." as the upper limit of insert size for singletons\n" if($mate_sense eq "RF"); - - my $fh = new FileHandle; - my $fh2 = new FileHandle; - - $fh->open("<$links_file") or die "$0: can't open $links_file :$!\n"; - $fh2->open(">$flinks_file") or die "$0: can't write in the output: $flinks_file :$!\n"; - - while(<$fh>){ - - $record++; - my @t = split; - my ($chr1,$chr2,$mates_list)=@t[0,3,7]; - - if($chrID->{$chr1} ne $chrID->{$chr2}) { #if inter-chromosomal link here (because sv_type=all), - $nb_links++; - - $t[16]="INV_TRANSLOC" if($t[16] eq "REVERSE_SENSE"); - $t[16]="TRANSLOC" if($t[16] eq "NORMAL_SENSE"); - - $t[16].= "\t"; - $t[19].= "\t"; - - print $fh2 join("\t",@t)."\n"; - - if($record>=$warn){ - print LOG "-- $fchr : $warn links processed - $nb_links links kept\n"; - $warn+=10000; - } - next; - } - - my $ifRenv = $t[16]; - my $ifBalanced = "UNBAL"; - $ifBalanced = $t[18] if ($order_filtering); - - my $numberOfPairs = $t[6]; - my @positions1 = deleteBadOrderSensePairs(split (/,/,$t[14])); - my @positions2 = deleteBadOrderSensePairs(split (/,/,$t[15])); - - if ($ifBalanced eq "BAL") { - - if ($ifRenv eq "INV_TRANSLOC") { - $ifRenv = "INV_FRAGMT"; #for intrachromosomal inverted translocation is the same as inverted fragment - } - if ($ifRenv eq "NORMAL_SENSE") { - $ifRenv = "TRANSLOC"; - } - if ($ifRenv eq "REVERSE_SENSE") { - $ifRenv = "INV_FRAGMT"; #for intrachromosomal inverted translocation is the same as inverted fragment - } - $t[19].= "\t"; - - my $meanDistance = 0; - - for my $i (0..$numberOfPairs-1) { - $meanDistance += $positions2[$i]-$positions1[$i]; - } - $meanDistance /= $numberOfPairs; - - $t[16] = $ifRenv."\t".$meanDistance; - #dont touch the annotation. It should be already OK. - - } else { - #only for unbalanced - - my $ifoverlap=overlap($t[1],$t[2],$t[4],$t[5]); - - my $ends_sense_class = (deleteBadOrderSensePairs(split (/,/,$t[8])))[0]. - (deleteBadOrderSensePairs(split (/,/,$t[9])))[0]; - my $ends_order_class = (deleteBadOrderSensePairs(split (/,/,$t[10])))[0]. - (deleteBadOrderSensePairs(split (/,/,$t[11])))[0]; - - my $indel_type = $ifRenv; - - my $meanDistance = "N/A"; - - ($meanDistance, $indel_type) = checkIndel ($numberOfPairs, #identify insertion type for rearrangments without inversion, calculates distance between cluster - \@positions1, #assign N/A to $indel_type if unknown - \@positions2, - $ifRenv, - $ifoverlap, - $indel_sigma_threshold, - $dup_sigma_threshold, - $singleton_sigma_threshold, - $mu, - $sigma, - $ifBalanced, - $ends_sense_class, - $ends_order_class, - $mate_sense, - $diff_sense_ends, - ); - - #filtering of pairs with distance inconsistant with the SV - if ($ifRenv ne "REVERSE_SENSE") { - my $maxCoord1 =$chr->{$chrID->{$chr1}}->{length}; - my $maxCoord2 =$chr->{$chrID->{$chr2}}->{length}; - $meanDistance = recalc_t_usingInsertSizeInfo(\@t,$mu,$sigma,$meanDistance,$tag_length,$diff_sense_ends,$mate_sense, - $maxCoord1,$maxCoord2,$ends_sense_class,$ends_order_class,$nb_pairs_threshold,$order_filtering); - next if ($t[6] < $nb_pairs_threshold); - }else{ - $t[19].= "\t"; - } - $t[16] = $indel_type."\t".$meanDistance; - } - - $nb_links++; - - print $fh2 join("\t",@t)."\n"; - if($record>=$warn){ - print LOG "-- $fchr : $warn links processed - $nb_links links kept\n"; - $warn+=10000; - } - } - $fh->close; - $fh2->close; - - print LOG "-- $fchr : Total : $record links analysed - $nb_links links kept\n"; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub checkIndel { - - my ($numberOfPairs, $positions1, $positions2, $ifRenv, $ifoverlap, $indel_sigma_threshold, $dup_sigma_threshold, $singleton_sigma_threshold, - $mu, $sigma, $ifBalanced,$ends_sense_class,$ends_order_class,$mate_sense,$diff_sense_ends) = @_; - - my $meanDistance = 0; - - for my $i (0..$numberOfPairs-1) { - $meanDistance += $positions2->[$i]-$positions1->[$i]; - } - $meanDistance /= $numberOfPairs; - - return ($meanDistance,"INV_DUPLI") if (($ifRenv eq "REVERSE_SENSE") && ($meanDistance<$mu+$dup_sigma_threshold*$sigma) ); - - return ($meanDistance,"INVERSION") if ($ifRenv eq "REVERSE_SENSE"); - - if($diff_sense_ends){ - return ($meanDistance, "LARGE_DUPLI") if ($ends_sense_class ne $mate_sense) && ($meanDistance>$mu+$dup_sigma_threshold*$sigma) ; - return ($meanDistance, "SINGLETON") if (($meanDistance<$mu-$singleton_sigma_threshold*$sigma) && $mate_sense eq "RF" && ($ends_sense_class eq inverseSense($mate_sense))); - }else{ - return ($meanDistance, "LARGE_DUPLI") if (($ends_sense_class eq $mate_sense) && ($ends_order_class eq "12") || ($ends_sense_class eq inverseSense($mate_sense)) && ($ends_order_class eq "21")) && - ($meanDistance>$mu+$dup_sigma_threshold*$sigma) ; - } - - return ($meanDistance, "SMALL_DUPLI") if (($meanDistance<$mu-$dup_sigma_threshold*$sigma) && $ifoverlap); - - return ($meanDistance, "DUPLICATION") if ($diff_sense_ends && ($ends_sense_class ne $mate_sense) && ($meanDistance<$mu-$dup_sigma_threshold*$sigma) ) ; - - return ($meanDistance, "INSERTION") if ($meanDistance<$mu -$indel_sigma_threshold*$sigma); - return ($meanDistance, "DELETION") if ($meanDistance>$mu+$indel_sigma_threshold*$sigma); - - return ($meanDistance, "UNDEFINED"); -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#sub reacalulate @t so that get rid of unconsistent pairs (unconsistent insert size ) -sub recalc_t_usingInsertSizeInfo { - my($t,$mu,$sigma,$meanDistance,$tag_length,$diff_sense_ends,$mate_sense,$maxCoord1,$maxCoord2,$ends_sense_class,$ends_order_class,$nb_pairs_threshold,$order_filtering) = @_; - - my @badPairs; - - my @positions1 = getAllEntries($t->[14]); - my @positions2 = getAllEntries($t->[15]); - - if ($meanDistance < $mu) { - for my $i (0..scalar(@positions1)-1) { - if (substr($positions2[$i],-1,1) ne '$' && substr($positions2[$i],-1,1) ne '*' && $positions2[$i]-$positions1[$i]>=$mu) { - push(@badPairs,$i); - } - } - } else { - for my $i (0..scalar(@positions1)-1) { - if (substr($positions2[$i],-1,1) ne '$' && substr($positions2[$i],-1,1) ne '*' && $positions2[$i]-$positions1[$i]<=$mu) { - push(@badPairs,$i); - } - } - } - - if (scalar (@badPairs)>0) { - #print join("\t",@badPairs).": ".join("\t",@t)."\n"; - #remove these inconsistant links - $t->[6] -= scalar(@badPairs); #numberOfPairs - return if ($t->[6] < $nb_pairs_threshold); - - $t->[7] = mark_values(\@badPairs, $t->[7]); - $t->[8] = mark_values(\@badPairs, $t->[8]); - $t->[9] = mark_values(\@badPairs, $t->[9]); - $t->[10] = mark_values(\@badPairs, $t->[10]); - $t->[11] = mark_values(\@badPairs, $t->[11]); - - $t->[12] = mark_indexes(\@badPairs, $t->[12]); - $t->[13] = mark_indexes(\@badPairs, $t->[13]); - - $t->[14] = mark_values(\@badPairs, $t->[14]); - $t->[15] = mark_values(\@badPairs, $t->[15]); - $t->[19] = recalculate_ratio($t->[6],$t->[19]) if ($order_filtering); #add the second ratio - $t->[17] = recalculate_ratio($t->[6],$t->[17]) unless ($order_filtering); - ($t->[1],$t->[2]) = recalculate_boundaries($t->[14],$t->[8],$t->[10],$tag_length); - ($t->[4],$t->[5]) = recalculate_boundaries($t->[15],$t->[9],$t->[11],$tag_length); - - #recalc breakpoints: - my $quant001 = 3.090232; - my $maxFragmentLength = &floor($quant001 * $sigma + $mu); - $t->[20] = recalc_breakpoints($mate_sense,$maxCoord1,$t->[14],substr($ends_sense_class,0,1),substr($ends_order_class,0,1),$t->[1],$t->[2],$maxFragmentLength,$diff_sense_ends ) if ($order_filtering); - $t->[21] = recalc_breakpoints($mate_sense,$maxCoord2,$t->[15],substr($ends_sense_class,1,1),substr($ends_order_class,1,1),$t->[4],$t->[5],$maxFragmentLength,$diff_sense_ends ) if ($order_filtering); - #recalc total ratio - $t->[22] = $t->[6] / $t->[23] if ($order_filtering); - $t->[18] = $t->[6] / $t->[19] unless ($order_filtering); - - @positions1 = deleteBadOrderSensePairs(split (/,/,$t->[14])); - @positions2 = deleteBadOrderSensePairs(split (/,/,$t->[15])); - - $meanDistance = 0; - - for my $i (0..scalar(@positions1)-1) { - $meanDistance += $positions2[$i]-$positions1[$i]; - } - $meanDistance /= scalar(@positions1); - - } else { - $t->[17] = recalculate_ratio((split(/\//,$t->[17]))[0],$t->[17]) unless ($order_filtering); - $t->[19] = recalculate_ratio((split(/\//,$t->[19]))[0],$t->[19]) if ($order_filtering); - - } #nothing has been filtered - return $meanDistance; -} - -sub recalculate_ratio { - my ($left, $ratio) = @_; - my @elements = split (/\//,$ratio); - $elements[1]= $elements[0]; - $elements[0]=$left; - return $ratio."\t".join("/",@elements); -} - -sub recalc_breakpoints { - my ($mate_sense,$maxCoord,$startString,$strand,$firstEndOrder,$coord_start_chr,$coord_end_chr,$maxFragmentLength,$diff_sense_ends ) = @_; - my $break_pont_chr; - - my $leftLetterOk = substr($mate_sense, 0, 1); #R - my $rightLetterOk = substr($mate_sense, 1, 1); #F - - - my @positions = deleteBadOrderSensePairs(split (/,/,$startString)); - - unless ($diff_sense_ends) { - $break_pont_chr = (($strand eq 'R' && $firstEndOrder == 2) || ($strand eq 'F' && $firstEndOrder == 1))?'('.$coord_end_chr.','.min(($coord_start_chr+$maxFragmentLength),$maxCoord).')':'('.max(($coord_end_chr-$maxFragmentLength),1).','.$coord_start_chr.')'; - } else { - $break_pont_chr = ($strand eq $leftLetterOk)?'('.$coord_end_chr.','.min(($coord_start_chr+$maxFragmentLength),$maxCoord).')':'('.max(($coord_end_chr-$maxFragmentLength),1).','.$coord_start_chr.')'; - } - return $break_pont_chr; -} -sub recalculate_boundaries { - my ($startString,$senseString,$endsOrderString,$tag_length) = @_; - my @positions = deleteBadOrderSensePairs(split (/,/,$startString)); - my @strands = deleteBadOrderSensePairs(split (/,/,$senseString)); - my @ends_orders = deleteBadOrderSensePairs(split (/,/,$endsOrderString)); - my @ends; getEnds(\@ends,\@positions,\@strands,\@ends_orders,$tag_length); - my $coord_start_cluster = min(min(@positions),min(@ends)); - my $coord_end_cluster = max(max(@positions),max(@ends)); - return ($coord_start_cluster,$coord_end_cluster); -} - -sub remove_indexes { - my ($bads, $string) = @_; - my @elements = deleteBadOrderSensePairs(split (/,/,$string)); - for my $i (reverse sort %{$bads}) { - delete $elements[$i]; - } - return "(".join(",",@elements).")"; -} -##add @ to to elements -sub mark_values { - my ($bads, $string) = @_; - my @elements = getAllEntries($string); - for my $i (@{$bads}) { - $elements[$i] .= "@"; - } - return "(".join(",",@elements).")"; -} -##add @ to to indexes -sub mark_indexes { - my ($bads, $string) = @_; - my @elements = getAllEntries($string); - for my $i ((0..scalar(@elements)-1)) { - for my $j (@{$bads}) { - $elements[$i] .= "@" if ($elements[$i] eq ($j+1)); - } - } - - return "(".join(",",@elements).")"; -} - -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub redraw { - - my ($type,$table,$secondTable,$badInFRSense,$ifBalanced,$arr) = @_; - - my $out; - my @first_arr; - if ($ifBalanced eq 'BAL') { - my @second_arr; - my $lastPushed = 1; - if ($type == 1) { - for my $i (0 .. scalar(@{$arr})-1) { - if (exists ($table->{$i})) { - push(@first_arr,$arr->[$i]); - $lastPushed = 1; - }elsif (exists ($secondTable->{$i})) { - push(@second_arr,$arr->[$i]); - $lastPushed = 2; - } elsif ($lastPushed == 1) { - if (exists ($badInFRSense->{$i})) { - push(@first_arr,$arr->[$i]."\$"); - }else { - push(@first_arr,$arr->[$i]."*"); - } - } elsif ($lastPushed == 2) { - if (exists ($badInFRSense->{$i})) { - push(@second_arr,$arr->[$i]."\$"); - }else { - push(@second_arr,$arr->[$i]."*"); - } - } else {print "Error!";exit;} - } - } else { - for my $i (@{$arr}) { - if (exists ($table->{$i-1})) { - push(@first_arr,$i); - $lastPushed = 1; - }elsif (exists ($secondTable->{$i-1})) { - push(@second_arr,$i); - $lastPushed = 2; - } elsif ($lastPushed == 1) { - if (exists ($badInFRSense->{$i-1})) { - push(@first_arr,$i."\$"); - }else { - push(@first_arr,$i."*"); - } - } elsif ($lastPushed == 2) { - if (exists ($badInFRSense->{$i-1})) { - push(@second_arr,$i."\$"); - }else { - push(@second_arr,$i."*"); - } - } else {print "Error!";exit;} - } - } - $out = '('.join(",",@first_arr).'),('.join(",",@second_arr).')'; - } - else { - if ($type == 1) { - for my $i (0 .. scalar(@{$arr})-1) { - if (exists ($table->{$i})) { - push(@first_arr,$arr->[$i]); - } else { - if (exists ($badInFRSense->{$i})) { - push(@first_arr,$arr->[$i]."\$"); - }else { - push(@first_arr,$arr->[$i]."*"); - } - } - } - } else { - for my $i (@{$arr}) { - if (exists ($table->{$i-1})) { - push(@first_arr,$i); - } else { - if (exists ($badInFRSense->{$i-1})) { - push(@first_arr,$i."\$"); - }else { - push(@first_arr,$i."*"); - } - } - } - } - $out = '('.join(",",@first_arr).')'; - } - return $out; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub check { - - my $table = $_[0]; - my $bad = 'OK'; - my $max = 0; - for my $i (sort {$a<=>$b} keys %{$table}) { - unless ($table->{$i}->{nonAdeq} == 0) { - if ($max<$table->{$i}->{nonAdeq}) { - $max=$table->{$i}->{nonAdeq}; - $bad = $i; - } - } - } - return $bad; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub reversed { - - my ($i,$j,$ifRenv,$positions) = @_; - if (($ifRenv eq 'REVERSE_SENSE' && $positions->[$i]<$positions->[$j]) || ($ifRenv ne 'REVERSE_SENSE' && $positions->[$i]>$positions->[$j])){ - return 1; - } - return 0; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub remove { - - my ($bad,$table) = @_; - for my $i (sort {$a<=>$b} keys %{$table}) { - if ($bad == $i) { - delete($table->{$i});; - } else { - if (exists($table->{$i}->{$bad})) { - delete($table->{$i}->{$bad}); - $table->{$i}->{nonAdeq}--; - } - } - } -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub findBadInRFSenseSOLiDSolexa { #choose maximum: FFFFs or RRRRs - - my ($strand,$ends_order,$mate_sense,@keysLeft) = @_; - - my $leftLetterOk = substr($mate_sense, 0, 1); #R - my $rightLetterOk = substr($mate_sense, 1, 1); #F - - my (@standardArray); - if ($leftLetterOk eq $rightLetterOk) { #SOLID mate-pairs - $leftLetterOk = 'R'; - $rightLetterOk = 'F'; - @standardArray = translateSolidToRF($strand,$ends_order); - } else { - @standardArray = @{$strand}; - } - - my $ifR = 0; - my @Rs; - - for my $i (@keysLeft) { - if ($standardArray[$i] eq $leftLetterOk) { - $ifR++; - push(@Rs,$i); - } - } - - - my $ifF = 0; - my @Fs; - - for my $i (@keysLeft) { - if ($standardArray[$i] eq $rightLetterOk) { - $ifF++; - push(@Fs,$i); - } - } - - if($ifR>=$ifF) { - return @Fs; - } - return @Rs; -} - -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub findBadInFRSenseSOLiDSolexa { #should work both for SOLiD and Solexa - - my ($strand1,$strand2,$ends_order1,$ends_order2,$order1,$order2) = ($_[0],$_[1],$_[2],$_[3],$_[4],$_[5]); - my $mate_sense = $_[6]; - - my $leftLetterOk = substr($mate_sense, 0, 1); #R - my $rightLetterOk = substr($mate_sense, 1, 1); #F - - my (@standardArray1,@standardArray2); - - if ($leftLetterOk eq $rightLetterOk) { #SOLID mate-pairs - $leftLetterOk = 'R'; - $rightLetterOk = 'F'; - @standardArray1 = translateSolidToRF($strand1,$ends_order1); - my @arr = getOrderedStrands($strand2,$order2); - my @ends2 = getOrderedStrands($ends_order2,$order2); - @standardArray2 = translateSolidToRF(\@arr,\@ends2); - - } else { - @standardArray1 = @{$strand1}; - @standardArray2 = getOrderedStrands($strand2,$order2); - } - - #we will try 4 possibilities, 2 for each end of the link: RFRR-FFF->RFFFF , RFRR-FFF->RRRFFF - - #for the first end: - - my @array = @standardArray1; - my %badInFRSense1; - for my $i (1..scalar (@array)-1){ # FRFRFFFF -> FFFFFF and RRFRFRFFFF -> RRFFFFFF - if ($array[$i-1] eq $rightLetterOk && $array[$i] eq $leftLetterOk) { - $badInFRSense1{$i}=1; - $array[$i] = $rightLetterOk; - } - } - my $numberRRRFFF_or_FFF_1 = scalar(@array)-scalar(keys %badInFRSense1); - @array = @standardArray1; - my %badInFRSense0; - for my $i (reverse(1..scalar (@array)-1)){ # FRFRFFFFRR -> FFFFFFRR - if ($array[$i-1] eq $rightLetterOk && $array[$i] eq $leftLetterOk) { - $badInFRSense0{$i-1}=1; - $array[$i-1] = $leftLetterOk; - - } - } - my $numberRRF1 = scalar(@array)-scalar(keys %badInFRSense0); - - #for the second end: - @array = @standardArray2; - - my %badInFRSense3; - for my $i (1..scalar(@array)-1){ - if ($array[$i-1] eq $rightLetterOk && $array[$i] eq $leftLetterOk) { - $badInFRSense3{$order2->[$i]}=1; - $array[$i] = $rightLetterOk; - } - } - my $numberRRRFFF_or_FFF_2 = scalar(@array)-scalar(keys %badInFRSense3); - - @array = @standardArray2; - my %badInFRSense5; - for my $i (reverse(1..scalar (@array)-1)){ # FRFRFFFF -> FFFFFF - if ($array[$i-1] eq $rightLetterOk && $array[$i] eq $leftLetterOk) { - $badInFRSense5{$i-1}=1; - $array[$i-1] = $leftLetterOk; - } - } - my $numberRRF2 = scalar(@array)-scalar(keys %badInFRSense5); - - if ($numberRRF1>=$numberRRRFFF_or_FFF_1 && $numberRRF1 >= $numberRRRFFF_or_FFF_2 && $numberRRF1 >=$numberRRF2) { - return (1,%badInFRSense0); - } - - if ($numberRRRFFF_or_FFF_1 >=$numberRRF1 && $numberRRRFFF_or_FFF_1 >= $numberRRRFFF_or_FFF_2 && $numberRRRFFF_or_FFF_1 >= $numberRRF2) { - return (1,%badInFRSense1); - } - - if ($numberRRRFFF_or_FFF_2 >= $numberRRF1 && $numberRRRFFF_or_FFF_2 >= $numberRRRFFF_or_FFF_1 && $numberRRRFFF_or_FFF_2 >=$numberRRF2) { - return (2,%badInFRSense3); - } - - if ($numberRRF2 >= $numberRRF1 && $numberRRF2 >= $numberRRRFFF_or_FFF_1 && $numberRRF2 >= $numberRRRFFF_or_FFF_2 ) { - return (2,%badInFRSense5); - } - - #should not get here: - print STDERR "Error in findBadInFRSenseSOLiDSolexa()!\n"; - return (1,%badInFRSense1); -} - -sub getOrderedStrands { - my ($strand,$order) = ($_[0],$_[1]); - my @arr; - for my $i (0..scalar(@{$strand})-1) { - push(@arr,$strand->[$order->[$i]-1]); - } - return @arr; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub checkClusters { - - my ($ifRenv,$coord_start_chr1_cluster1,$coord_start_chr1_cluster2,$coord_start_chr2_cluster1,$coord_start_chr2_cluster2) = @_; - if ($ifRenv eq 'REVERSE_SENSE') { - if ($coord_start_chr1_cluster1 <= $coord_start_chr1_cluster2) { - return ($coord_start_chr2_cluster1 <= $coord_start_chr2_cluster2)?1:0; - } - return ($coord_start_chr2_cluster1 >= $coord_start_chr2_cluster2)?1:0; - } - #if NORM - if ($coord_start_chr1_cluster1 <= $coord_start_chr1_cluster2) { - return ($coord_start_chr2_cluster1 >= $coord_start_chr2_cluster2)?1:0; - } - return ($coord_start_chr2_cluster1 <= $coord_start_chr2_cluster2)?1:0; -} - -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub translateSolidToRF { - my ($strandArr,$ends_orderArr)=@_; - my @array; - for my $i (0..scalar(@{$strandArr})-1) { - if ($ends_orderArr->[$i]==1 && $strandArr->[$i] eq 'F') { - push(@array,'F'); - } - if ($ends_orderArr->[$i]==2 && $strandArr->[$i] eq 'F') { - push(@array,'R'); - } - if ($ends_orderArr->[$i]==1 && $strandArr->[$i] eq 'R') { - push(@array,'R'); - } - if ($ends_orderArr->[$i]==2 && $strandArr->[$i] eq 'R') { - push(@array,'F'); - } - } - return @array; -} - -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#convert the links file to the circos format -sub links2segdup{ - - my($id,$color_code,$links_file,$segdup_file)=@_; - - print LOG "# Converting to the circos format...\n"; - - tie (my %hcolor,'Tie::IxHash'); #color-code hash table - foreach my $col (keys %{$color_code}){ - my ($min_links,$max_links)=split(",",$color_code->{$col}); - $hcolor{$col}=[$min_links,$max_links]; - } - - open LINKS, "<$links_file" or die "$0: can't open $links_file :$!\n"; - open SEGDUP, ">$segdup_file" or die "$0: can't write in the output: $segdup_file :$!\n"; - - my $index=1; - while(<LINKS>){ - - my ($chr1,$start1,$end1,$chr2,$start2,$end2,$count)=(split)[0,1,2,3,4,5,6]; - - my $color=getColor($count,\%hcolor,"circos"); #get the color-code according the number of links - - print SEGDUP "$index\t$id$chr1\t$start1\t$end1\tcolor=$color\n". #circos output - "$index\t$id$chr2\t$start2\t$end2\tcolor=$color\n"; - $index++; - } - - close LINKS; - close SEGDUP; - print LOG "-- output created: $segdup_file\n"; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#convert the links file to the bedPE format for BEDTools usage -sub links2bedPElinksfile{ - - my ($sample,$links_file,$bedpe_file)=@_; - - open LINKS, "<$links_file" or die "$0: can't open $links_file :$!\n"; - open BEDPE, ">$bedpe_file" or die "$0: can't write in the output: $bedpe_file :$!\n"; - - my $nb_links=1; - - while(<LINKS>){ - - chomp; - my @t=split("\t",$_); - my ($chr1,$start1,$end1,$chr2,$start2,$end2)=splice(@t,0,6); - my $type=($chr1 eq $chr2)? "INTRA":"INTER"; - $type.="_".$t[10]; - - $start1--; $start2--; - - print BEDPE "$chr1\t$start1\t$end1\t$chr2\t$start2\t$end2". - "\t$sample"."_link$nb_links\t$type\t.\t.". - "\t".join("|",@t)."\n"; - - $nb_links++; - } - - close LINKS; - close BEDPE; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub bedPElinks2linksfile{ - - my ($bedpe_file,$links_file)=@_; - - open BEDPE, "<$bedpe_file" or die "$0: can't open: $bedpe_file :$!\n"; - open LINKS, ">$links_file" or die "$0: can't write in the output $links_file :$!\n"; - - while(<BEDPE>){ - - chomp; - my $sample=(split("_",(split("\t",$_))[6]))[0]; - my @t1=(split("\t",$_))[0,1,2,3,4,5]; - my @t2=split(/\|/,(split("\t",$_))[10]); - push(@t2,$sample); - - print LINKS join("\t",@t1)."\t".join("\t",@t2)."\n"; - - } - close BEDPE; - close LINKS; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#convert the links file to the bed format -sub links2bedfile{ - - my ($tag_length,$color_code,$links_file,$bed_file)=@_; - - print LOG "# Converting to the bed format...\n"; - - my $compare=1; - if($links_file!~/compared$/){ - $compare=0; - $tag_length->{none}->{1}=$tag_length->{1}; - $tag_length->{none}->{2}=$tag_length->{2}; - } - - #color-code hash table - tie (my %hcolor,'Tie::IxHash'); - my %color_order; - my $n=1; - foreach my $col (keys %{$color_code}){ - my ($min_links,$max_links)=split(",",$color_code->{$col}); - $hcolor{$col}=[$min_links,$max_links]; - $color_order{$col}=$n; - $n++; - } - - my %pair; - my %pt; - $n=1; - open LINKS, "<$links_file" or die "$0: can't open $links_file:$!\n"; - - my %str=( "F"=>"+", "R"=>"-" ); - - while(<LINKS>){ - - my @t=split; - my $sample=($compare)? pop(@t):"none"; - - my $chr1=$t[0]; - my $chr2=$t[3]; - $chr1 = "chr".$chr1 unless ($chr1 =~ m/chr/i); - $chr2 = "chr".$chr2 unless ($chr2 =~ m/chr/i); - my $same_chr=($chr1 eq $chr2)? 1:0; - - my $count=$t[6]; - my $color=getColor($count,\%hcolor,"bed"); - - my @pairs=deleteBadOrderSensePairs(split(",",$t[7])); - my @strand1=deleteBadOrderSensePairs(split(",",$t[8])); - my @strand2=deleteBadOrderSensePairs(split(",",$t[9])); - my @ends_order1=deleteBadOrderSensePairs(split(",",$t[10])); - my @ends_order2=deleteBadOrderSensePairs(split(",",$t[11])); - my @position1=deleteBadOrderSensePairs(split(",",$t[14])); - my @position2=deleteBadOrderSensePairs(split(",",$t[15])); - my @start1; my @end1; getCoordswithLeftMost(\@start1,\@end1,\@position1,\@strand1,\@ends_order1,$tag_length->{$sample}); - my @start2; my @end2; getCoordswithLeftMost(\@start2,\@end2,\@position2,\@strand2,\@ends_order2,$tag_length->{$sample}); - - - for my $p (0..$#pairs){ - - if (!exists $pair{$pairs[$p]}){ - - if($same_chr){ - - $pair{$pairs[$p]}->{0}=[ $chr1, $start1[$p]-1, $end2[$p], $pairs[$p], 0, $str{$strand1[$p]}, - $start1[$p]-1, $end2[$p], $color, - 2, $tag_length->{$sample}->{$ends_order1[$p]}.",".$tag_length->{$sample}->{$ends_order2[$p]}, "0,".($start2[$p]-$start1[$p]) ]; - $pt{$n}=$pair{$pairs[$p]}->{0}; - $n++; - - }else{ - - $pair{$pairs[$p]}->{1}=[ $chr1, $start1[$p]-1, $end1[$p] , $pairs[$p]."/1", 0, $str{$strand1[$p]}, - $start1[$p]-1, $end1[$p], $color, - 1, $tag_length->{$sample}->{$ends_order1[$p]}, 0]; - $pt{$n}=$pair{$pairs[$p]}->{1}; - $n++; - - - $pair{$pairs[$p]}->{2}=[ $chr2, $start2[$p]-1, $end2[$p], $pairs[$p]."/2", 0, $str{$strand2[$p]}, - $start2[$p]-1, $end2[$p], $color, - 1, $tag_length->{$sample}->{$ends_order2[$p]}, 0]; - $pt{$n}=$pair{$pairs[$p]}->{2}; - $n++; - } - }else{ - - if($same_chr){ - ${$pair{$pairs[$p]}->{0}}[8]=$color if($color_order{$color}>$color_order{${$pair{$pairs[$p]}->{0}}[8]}); - }else{ - ${$pair{$pairs[$p]}->{1}}[8]=$color if($color_order{$color}>$color_order{${$pair{$pairs[$p]}->{1}}[8]}); - ${$pair{$pairs[$p]}->{2}}[8]=$color if($color_order{$color}>$color_order{${$pair{$pairs[$p]}->{2}}[8]}); - } - } - } - } - close LINKS; - - my $nb_pairs=$n-1; - - open BED, ">$bed_file" or die "$0: can't write in the output: $bed_file :$!\n"; - print BED "track name=\"$bed_file\" description=\"mate pairs involved in links\" ". - "visibility=2 itemRgb=\"On\"\n"; - - for my $i (1..$nb_pairs){ - print BED join("\t",@{$pt{$i}})."\n"; - } - - close BED; - - print LOG "-- output created: $bed_file\n"; - - undef %pair; - undef %pt; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub deleteBadOrderSensePairs{ - - my (@tab)=@_; - my @tab2; - - foreach my $v (@tab){ - - $v=~s/[\(\)]//g; - push(@tab2,$v) if($v!~/[\$\*\@]$/); - } - return @tab2; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub getAllEntries{ - my (@tab)=split (/,/,$_[0]); - my @tab2; - - foreach my $v (@tab){ - - $v=~s/[\(\)]//g; - push(@tab2,$v); - } - return @tab2; -}#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub getAllEntriesWOspecialChar{ - my (@tab)=split (/,/,$_[0]); - my @tab2; - - foreach my $v (@tab){ - - $v=~s/[\(\)\$\*\@]//g; - push(@tab2,$v); - } - return @tab2; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub links2SVfile{ - - my($links_file,$sv_file)=@_; - - print LOG "# Converting to the sv output table...\n"; - open LINKS, "<$links_file" or die "$0: can't open $links_file:$!\n"; - open SV, ">$sv_file" or die "$0: can't write in the output: $sv_file :$!\n"; - - my @header=qw(chr_type SV_type BAL_type chromosome1 start1-end1 average_dist - chromosome2 start2-end2 nb_pairs score_strand_filtering score_order_filtering score_insert_size_filtering - final_score breakpoint1_start1-end1 breakpoint2_start2-end2); - - my $nb_links=0; - - while (<LINKS>){ - - my @t=split; - my @sv=(); - my $sv_type="-"; - my $strand_ratio="-"; - my $eq_ratio="-"; - my $eq_type="-"; - my $insert_ratio="-"; - my $link="-"; - my ($bk1, $bk2)=("-","-"); - my $score="-"; - - my ($chr1,$start1,$end1)=($t[0],$t[1],$t[2]); - my ($chr2,$start2,$end2)=($t[3],$t[4],$t[5]); - my $nb_pairs=$t[6]; - $chr1 = "chr".$chr1 unless ($chr1 =~ m/chr/i); - $chr2 = "chr".$chr2 unless ($chr2 =~ m/chr/i); - my $chr_type=($chr1 eq $chr2)? "INTRA":"INTER"; - - #if strand filtering - if (defined $t[16]){ - #if inter-chr link - $sv_type=$t[16]; - if(defined $t[17] && $t[17]=~/^(\d+)\/(\d+)$/){ - $strand_ratio=floor($1/$2*100)."%"; - $score=$t[18]; - } - if(defined $t[18] && $t[18]=~/^(\d+)\/(\d+)$/){ - #if intra-chr link with insert size filtering - $strand_ratio=floor($1/$2*100)."%"; - $link=floor($t[17]); - if($sv_type!~/^INV/){ - $insert_ratio=floor($1/$2*100)."%" if($t[19]=~/^(\d+)\/(\d+)$/); - $score=$t[20]; - }else{ - $score=$t[19]; - } - } - } - - if(defined $t[18] && ($t[18] eq "UNBAL" || $t[18] eq "BAL")){ - - #if strand and order filtering only and/or interchr link - $eq_type=$t[18]; - $eq_ratio=floor($1/$2*100)."%" if($t[19]=~/^(\d+)\/(\d+)$/); - ($bk1, $bk2)=($t[20],$t[21]); - foreach my $bk ($bk1, $bk2){$bk=~s/\),\(/ /g; $bk=~s/(\(|\))//g; $bk=~s/,/-/g;} - $score=$t[22]; - - }elsif(defined $t[19] && ($t[19] eq "UNBAL" || $t[19] eq "BAL")){ - - #if all three filtering - $link=floor($t[17]); - $eq_type=$t[19]; - $eq_ratio=floor($1/$2*100)."%" if($t[20]=~/^(\d+)\/(\d+)$/); - - if(defined $t[21] && $t[21]=~/^(\d+)\/(\d+)$/){ - $insert_ratio=floor($1/$2*100)."%"; - ($bk1, $bk2)=($t[22],$t[23]); - $score=$t[24]; - - }else{ - ($bk1, $bk2)=($t[21],$t[22]); - $score=$t[23]; - } - foreach my $bk ($bk1, $bk2){$bk=~s/\),\(/ /g; $bk=~s/(\(|\))//g; $bk=~s/,/-/g;} - - } - - - push(@sv, $chr_type, $sv_type,$eq_type); - push(@sv,"$chr1\t$start1-$end1"); - push(@sv, $link); - push(@sv,"$chr2\t$start2-$end2", - $nb_pairs,$strand_ratio,$eq_ratio,$insert_ratio, decimal($score,4), $bk1, $bk2); - - - print SV join("\t",@sv)."\n"; - } - - close LINKS; - close SV; - - system "sort -k 9,9nr -k 13,13nr $sv_file > $sv_file.sorted"; - - open SV, "<".$sv_file.".sorted" or die "$0: can't open in the output: $sv_file".".sorted :$!\n"; - my @links=<SV>; - close SV; - - open SV, ">$sv_file" or die "$0: can't write in the output: $sv_file :$!\n"; - - print SV join("\t",@header)."\n"; - print SV @links; - close SV; - - unlink($sv_file.".sorted"); - - print LOG "-- output created: $sv_file\n"; - -} -#------------------------------------------------------------------------------# -sub densityCalculation{ - - my ($chr,$chrID,$file,$tag_length,$window_dist,$step,$mates_file,$mates_file_ref,$density_file,$input_format)=@_; - - my @sfile=split(/\./,$$mates_file[$file]); - my $fchr=$sfile[$#sfile]; - - my $fh = new FileHandle; - - my %density; - my %density_ref; - my @ratio; - my ($cov,$cov_ref); - - #FREQUENCY CALCULATION PROCEDURE - print LOG "# $fchr : Frequency calculation procedure...\n"; - &FreqCalculation(\%density,$chr,$chrID,$tag_length,$window_dist,$step,$$mates_file[$file],$input_format); - &FreqCalculation(\%density_ref,$chr,$chrID,$tag_length,$window_dist,$step,$$mates_file_ref[$file],$input_format); - - #MAKING RATIO AND OUTPUT - print LOG "\# Ratio calculation procedure...\n"; - $density_file=~s/\/mates\//\/density\//; - $fh->open(">".$density_file) or die "$0: can't write in the output ".$density_file." :$!\n"; - - foreach my $k (1..$chr->{nb_chrs}){ - foreach my $frag (1..$chr->{$k}->{nb_frag}){ - - @ratio= ($chr->{$k}->{name}, - (${$chr->{$k}->{$frag}}[0]+1), - (${$chr->{$k}->{$frag}}[1]+1)); - - $cov=(exists $density{$k}{$frag}->{count})? $density{$k}{$frag}->{count}:0; - $cov_ref=(exists $density_ref{$k}{$frag}->{count})? $density_ref{$k}{$frag}->{count}:0; - - push(@ratio,$cov,$cov_ref); - push(@ratio,log($cov/$cov_ref)) if($cov && $cov_ref); - push(@ratio,-log($cov_ref+1)) if(!$cov && $cov_ref); - push(@ratio,log($cov+1)) if($cov && !$cov_ref); - next if(!$cov && !$cov_ref); - - print $fh join("\t",@ratio)."\n"; - } - } - - $fh->close; - print LOG "-- output created: $density_file\n"; - - undef %density; - undef %density_ref; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub FreqCalculation{ - - my ($density,$chr,$chrID,$tag_length,$window_dist,$step,$mates_file,$input_format) = @_; - - my @sfile=split(/\./,$mates_file); - my $fchr=$sfile[$#sfile]; - my $fh = new FileHandle; - - my $nb_windows=0; - my $warn=100000; - my $record=0; - my %pair; - - my ($sumX,$sumX2) = (0,0); - - print LOG "\# Frequency calculation for $mates_file...\n"; - - if ($mates_file =~ /.gz$/) { - $fh->open("gunzip -c $mates_file |") or die "$0: can't open ".$mates_file.":$!\n"; - }elsif($mates_file =~ /.bam$/){ - o$fh->open("$SAMTOOLS_BIN_DIR/samtools view $mates_file |") or die "$0: can't open ".$mates_file.":$!\n";#GALAXY - }else{ - $fh->open("<".$mates_file) or die "$0: can't open ".$mates_file.":$!\n"; - } - - while(<$fh>){ - - my @t=split; - my $mate=$t[0]; - - my ($chr_read1, $chr_read2, $firstbase_read1, $firstbase_read2, $end_order_read1, $end_order_read2,); - - next if(exists $pair{$mate}); - - next if (!readMateFile(\$chr_read1, \$chr_read2, \$firstbase_read1, \$firstbase_read2,\$end_order_read1, \$end_order_read2, \@t, $input_format,$tag_length)); - - next unless (exists $chrID->{$chr_read1} || exists $chrID->{$chr_read2}); - ($chr_read1, $chr_read2)= ($chrID->{$chr_read1},$chrID->{$chr_read2}); - - $pair{$mate}=undef; - $record++; - - my ($coord_start_read1,$coord_end_read1, $coord_start_read2,$coord_end_read2); - - recupCoords($firstbase_read1,\$coord_start_read1,\$coord_end_read1,$tag_length->{$end_order_read1},$input_format); - recupCoords($firstbase_read2,\$coord_start_read2,\$coord_end_read2,$tag_length->{$end_order_read2},$input_format); - - my $length = abs($coord_start_read1-$coord_start_read2); - $sumX += $length; #add to sum and sum^2 for mean and variance calculation - $sumX2 += $length*$length; - - for(my $i=1;$i<=$chr->{$chr_read1}->{'nb_frag'};$i++){ - - if (abs ($coord_start_read1-${$chr->{$chr_read1}->{$i}}[0]) <= $window_dist){ - - &addToDensity($density,$chr_read1,$i,\$nb_windows) - if(overlap($coord_start_read1,$coord_end_read2,${$chr->{$chr_read1}->{$i}}[0],${$chr->{$chr_read1}->{$i}}[1])); - - }else{ - - $i=getNextFrag($coord_start_read1,$i,${$chr->{$chr_read1}->{$i}}[0],$chr->{$chr_read1}->{nb_frag},$window_dist,$step); - } - } - - if($record>=$warn){ - print LOG "-- $warn mate-pairs analysed - $nb_windows points created\n"; - $warn+=100000; - } - } - $fh->close; - - print LOG "-- $fchr : Total : $record mate-pairs analysed - $nb_windows points created\n"; - - if($record>0){ - - my $mu = $sumX/$record; - my $sigma = sqrt($sumX2/$record - $mu*$mu); - print LOG "-- $fchr : mu length = $mu, sigma length = $sigma\n"; - } - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub ratio2segdup{ - - my($id,$density_file,$segdup_file)=@_; - - print LOG "# Converting to circos format...\n"; - - open RATIO, "<$density_file" or die "$0: can't open $density_file :$!\n"; - open SEGDUP, ">$segdup_file" or die "$0: can't write in the output: $segdup_file :$!\n"; - - while(<RATIO>){ - chomp; - my ($chr1,$start1,$end1,$ratio)=(split /\t/)[0,1,2,5]; - print SEGDUP "$id$chr1\t$start1\t$end1\t$ratio\n"; - } - - close RATIO; - close SEGDUP; - print LOG "-- output created: $segdup_file\n"; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub ratio2bedfile{ - - my($density_file,$bed_file)=@_; - - print LOG "# Converting to bedGraph format...\n"; - - open RATIO, "<$density_file" or die "$0: can't open $density_file :$!\n"; - open BED, ">$bed_file" or die "$0: can't write in the output: $bed_file :$!\n"; - print BED "track type=bedGraph name=\"$bed_file\" description=\"log ratios for cnv detection\" ". - "visibility=2 color=255,0,0 alwaysZero=\"On\"\n"; - - while(<RATIO>){ - chomp; - my ($chr1,$start1,$end1,$ratio)=(split /\t/)[0,1,2,5]; - $chr1 = "chr".$chr1 unless ($chr1 =~ m/chr/); - print BED "$chr1\t".($start1-1)."\t$end1\t$ratio\n"; - } - - close RATIO; - close BED; - print LOG "-- output created: $bed_file\n"; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub inverseSense{ - - my $mate_sense=$_[0]; - my %reverse=( 'F' => 'R' , 'R' => 'F' , - 'FF' => 'RR', 'RR' => 'FF', - 'FR' => 'RF', 'RF' => 'FR'); - return $reverse{$mate_sense}; -} - -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub getNextFrag{ - - my ($read_start,$frag_num,$frag_start,$frag_last,$window_dist,$step)=@_; - - my $how_far = $read_start-$frag_start; - my $nb_windows_toskip; - - if($how_far>0){ - - $nb_windows_toskip=($how_far/$step)-($window_dist/$step); - $nb_windows_toskip=~ s/\..*//; - $nb_windows_toskip=0 if($nb_windows_toskip<0); - return ($frag_num + $nb_windows_toskip); - } - return $frag_last; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub getColor{ - - my($count,$hcolor,$format)=@_; - for my $col ( keys % { $hcolor} ) { - return $col if($count>=$hcolor->{$col}->[0] && $count<=$hcolor->{$col}->[1]); - } - return "white" if($format eq "circos"); - return "255,255,255" if($format eq "bed"); -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub recupCoords{ - - my($c_hit,$cs_hit,$ce_hit,$tag_length,$input_format)=@_; - my $strand = 'F'; - - if ($c_hit=~s/^\-//) { - $strand='R'; - $$cs_hit=$c_hit; - $$ce_hit=$c_hit-($tag_length-1); - }else{ - $$cs_hit=$c_hit; - $$ce_hit=$c_hit+($tag_length-1); - } - return $strand; - -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub overlap { - my($cs_hit,$ce_hit,$cs_region,$ce_region)=@_; - if( (($cs_hit < $cs_region) && ($ce_hit < $cs_region )) || (($cs_hit > $ce_region) && ($ce_hit > $ce_region )) ) { - return 0; - } - return 1; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub makeLink { - - my ($link,$chr1,$frag1,$chr2,$frag2,$mt,$nb)=@_; - - if($chr1>$chr2){ - ($chr1,$chr2)= ($chr2,$chr1); - ($frag1,$frag2)= ($frag2,$frag1); - } - - if($chr1 == $chr2){ - if($frag1>$frag2){ - ($frag1,$frag2)= ($frag2,$frag1); - } - } - - if(!exists $link->{$chr1}->{$chr2}->{$frag1}->{$frag2}){ - $link->{$chr1}->{$chr2}->{$frag1}->{$frag2}=$mt; - $$nb++; - }elsif($link->{$chr1}->{$chr2}->{$frag1}->{$frag2}!~/(^|,)$mt(,|$)/){ - $link->{$chr1}->{$chr2}->{$frag1}->{$frag2}.=",$mt"; - } -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#fonction of adding the read to the density profile -sub addToDensity { - - my ($density,$chr1,$frag1,$nb)=@_; - - if(!exists $density->{$chr1}->{$frag1}->{count}){ - $density->{$chr1}->{$frag1}->{count}=1; - $$nb++; - }else{ - $density->{$chr1}->{$frag1}->{count}++; - } -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub floor { - my $nb = $_[0]; - $nb=~ s/\..*//; - return $nb; -} -#------------------------------------------------------------------------------# -sub decimal{ - - my $num=shift; - my $digs_to_cut=shift; - - $num=sprintf("%.".($digs_to_cut-1)."f", $num) if ($num=~/\d+\.(\d){$digs_to_cut,}/); - - return $num; -} - -#------------------------------------------------------------------------------# -sub max { - - my($max) = shift(@_); - foreach my $temp (@_) { - $max = $temp if $temp > $max; - } - return($max); -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub min { - - my($min) = shift(@_); - foreach my $temp (@_) { - $min = $temp if $temp < $min; - } - return($min); -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub sortTablebyIndex{ - my ($tab1,$tab2)=@_; - my @tab3; - - foreach my $i (@$tab1){ - $tab3[$i]=$$tab2[$$tab1[$i]]; - } - return @tab3; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub round { - my $number = shift || 0; - my $dec = 10 ** (shift || 0); - return int( $dec * $number + .5 * ($number <=> 0)) / $dec; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub getUniqueTable{ - - my (@tab)=@_; - my (%saw,@out)=(); - undef %saw; - return sort(grep(!$saw{$_}++, @tab)); -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -sub catFiles { - - unlink("$_[1]") if(exists $_[1]); - system qq( cat "$_" >> "$_[1]" ) for @{$_[0]}; -} -#------------------------------------------------------------------------------# -#------------------------------------------------------------------------------# -#check if the configuration file is correct -sub validateconfiguration{ - - my %conf=%{$_[0]}; - my $list_prgs="@ARGV"; - - my @general_params=qw(input_format mates_orientation read1_length read2_length mates_file cmap_file); - my @detection_params=qw(split_mate_file window_size step_length split_mate_file); - my @filtering_params=qw(split_link_file nb_pairs_threshold strand_filtering split_link_file); - my @circos_params=qw(organism_id colorcode); - my @bed_params=qw(colorcode); - my @compare_params=qw(list_samples file_suffix); - - foreach my $dir ($conf{general}{output_dir},$conf{general}{tmp_dir}){ - - unless (defined($dir)) { - $dir = "."; - } - unless (-d $dir){ - mkdir $dir or die; - } - $dir.="/" if($dir!~/\/$/); - } - - unless (defined($conf{general}{num_threads})) { - $conf{general}{num_threads} = 1; - } - $conf{general}{num_threads}=24 if($conf{general}{num_threads}>24); - - if($list_prgs!~/links2compare/){ - - foreach my $p (@general_params){ - die("Error Config : The parameter \"$p\" is not defined\n") if (!defined $conf{general}{$p}); - } - - $conf{general}{input_format}="sam" if($conf{general}{input_format} eq "bam"); - - unless (defined($conf{general}{sv_type})) { - $conf{general}{sv_type} = "all"; - } - - $conf{general}{read_lengths}={ 1=> $conf{general}{read1_length}, 2=> $conf{general}{read2_length}}; - } - - if($list_prgs=~/(linking|cnv)/){ - - foreach my $p (@detection_params){ - die("Error Config : The parameter \"$p\" is not defined\n") if (!defined $conf{detection}{$p}); - } - - die("Error Config : The parameter \"mates_file_ref\" is not defined\n") if($list_prgs=~/cnv/ && !defined $conf{detection}{mates_file_ref}); - - if($conf{detection}{step_length}>$conf{detection}{window_size}){ - die("Error Config : Parameter \"step_length\" should not exceed \"window size\"\n"); - } - - unless (-d $conf{general}{tmp_dir}."/mates"){ - mkdir $conf{general}{tmp_dir}."/mates" or die; - } - - if($list_prgs=~/linking/){ - unless (-d $conf{general}{tmp_dir}."/links"){ - mkdir $conf{general}{tmp_dir}."/links" or die; - } - } - if($list_prgs=~/cnv/){ - unless (-d $conf{general}{tmp_dir}."/density"){ - mkdir $conf{general}{tmp_dir}."/density" or die; - } - } - - } - - if($list_prgs=~/filtering/){ - - foreach my $p (@filtering_params) { - die("Error Config : The filtering parameter \"$p\" is not defined\n") if (!defined $conf{filtering}{$p}); - - } - - if(defined($conf{filtering}{chromosomes})) { - my @chrs=split(",",$conf{filtering}{chromosomes}); - my $exclude=($chrs[0]=~/^\-/)? 1:0; - for my $chrName (@chrs){ - - die("Error Config : The filtering parameter \"chromosomes\" is not valid\n") - if(($chrName!~/^\-/ && $exclude) || ($chrName=~/^\-/ && !$exclude)); - - } - } - - if (( $conf{filtering}{order_filtering} )&& !$conf{filtering}{strand_filtering}) { - die("Error Config : The parameter strand_filtering is set to \"0\" while order_filtering is selected". - "\nChange strand_filtering to \"1\" if you want to use the order filtering\n"); - } - if (( !defined($conf{filtering}{mu_length}) || !defined($conf{filtering}{sigma_length}) )&& $conf{filtering}{order_filtering}) { - die("Error Config : You should set parameters \"mu_length\" and \"sigma_length\" to use order filtering\n"); - } - if (( $conf{filtering}{insert_size_filtering} )&& !$conf{filtering}{strand_filtering}) { - die("Error Config : The parameter strand_filtering is set to \"0\" while insert_size_filtering is selected". - "\nChange strand_filtering to \"1\" if you want to use the insert size filtering\n"); - } - if (( !defined($conf{filtering}{mu_length}) || !defined($conf{filtering}{sigma_length}) )&& $conf{filtering}{insert_size_filtering}) { - die("Error Config : You should set parameters \"mu_length\" and \"sigma_length\" to use discriminate insertions from deletions\n"); - } - - if (!defined($conf{filtering}{indel_sigma_threshold})) { - $conf{filtering}{indel_sigma_threshold} = 2; - } - if (!defined($conf{filtering}{dup_sigma_threshold})) { - $conf{filtering}{dup_sigma_threshold} = 2; - } - if (!defined($conf{filtering}{singleton_sigma_threshold})) { - $conf{filtering}{singleton_sigma_threshold} = 4; - } - - if (!defined($conf{filtering}{nb_pairs_order_threshold})) { - $conf{filtering}{nb_pairs_order_threshold} = 1; - } - - if (!defined($conf{filtering}{final_score_threshold})) { - $conf{filtering}{final_score_threshold} = 0.8; - } - - if ($conf{filtering}{nb_pairs_order_threshold}>$conf{filtering}{nb_pairs_threshold}) { - die("Error Config : Parameter \"nb_pairs_order_threshold\" should not exceed \"nb_pairs_threshold\"\n"); - } - - } - - if($list_prgs=~/2circos$/){ - foreach my $p (@circos_params) { - next if($list_prgs=~/^ratio/ && $p eq "colorcode"); - die("Error Config : The circos parameter \"$p\" is not defined\n") if (!defined $conf{circos}{$p}); - } - } - - if($list_prgs=~/2bed$/){ - foreach my $p (@bed_params) { - die("Error Config : The bed parameter \"$p\" is not defined\n") if (!defined $conf{bed}{$p}); - } - } - - if($list_prgs=~/links2compare/){ - foreach my $p (@compare_params) { - die("Error Config : The compare parameter \"$p\" is not defined\n") if (!defined $conf{compare}{$p}); - } - - unless (defined($conf{compare}{same_sv_type})) { - $conf{compare}{same_sv_type} = 0; - } - - unless (defined($conf{compare}{min_overlap})) { - $conf{compare}{min_overlap} = 1E-9; - } - - if($conf{compare}{circos_output}){ - foreach my $p (@circos_params) { - next if($list_prgs=~/^ratio/ && $p eq "colorcode"); - die("Error Config : The circos parameter \"$p\" is not defined\n") if (!defined $conf{circos}{$p}); - } - } - if($conf{compare}{bed_output}){ - foreach my $p (@bed_params) { - die("Error Config : The bed parameter \"$p\" is not defined\n") if (!defined $conf{bed}{$p}); - } - die("Error Config : The compare parameter \"list_read_lengths\" is not defined\n") if (!defined $conf{compare}{list_read_lengths}); - - my @samples=split(",",$conf{compare}{list_samples}); - my @read_lengths=split(",",$conf{compare}{list_read_lengths}); - for my $i (0..$#samples){ - my @l=split("-",$read_lengths[$i]); - $conf{compare}{read_lengths}{$samples[$i]}={ 1=> $l[0], 2=> $l[1]}; - } - } - } - - -} -#------------------------------------------------------------------------------# -#::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::#
--- a/svdetect/SVDetect_run_parallel.xml Thu Jul 12 12:03:16 2012 -0400 +++ /dev/null Thu Jan 01 00:00:00 1970 +0000 @@ -1,324 +0,0 @@ -<tool id="svdetect_run_parallel" name="Detect clusters of anomalously mapped pairs"> - -<description>and identify structural variants</description> - -<command interpreter="perl">SVDetect_run_parallel.pl - -#if $getLinks.linking == "linking" -linking -<!-- -out1 '$links_file' --> -#end if -#if $getFilteredLinks.filtering == "filtering" -filtering -<!--- out2 '$flinks_file' --> -#if str($getFilteredLinks.links2SV) == "create" -links2SV --out3 '$sv_file' -#end if -#if $getFilteredLinks.file_conversion.file_conversion_select=="convert" and str($getFilteredLinks.file_conversion.links2circos) == "create" -links2circos --out4 '$circos_file' -#end if -#if $getFilteredLinks.file_conversion.file_conversion_select=="convert" and str($getFilteredLinks.file_conversion.links2bed) == "create" -links2bed --out5 '$bed_file' -#end if -#end if --conf '$config_file' --l '$log_file' --N '$sample_name' - -</command> - -<inputs> - <param name="sample_name" type="text" value="sample" label="Sample Name"/> - <param name="mates_file" format="bam" type="data" label="Input BAM file (.ab.bam)"/> - <param name="cmap_file" format="len" type="data" label="Chromosomes list file (.len)" help="Tabulated file format with Chromosome ID (integer from 1), name and length"/> - <param name="mates_orientation" type="select" format="txt" label="Type of sequencing technology and libraries"> - <option value="FR">Illumina paired-ends</option> - <option value="RF">Illumina mate-pairs</option> - <option value="FR">SOLiD paired-ends</option> - <option value="RR">SOLiD mate-pairs</option> - </param> - <param name="read1_length" type="integer" size="10" value="50" label="Read 1 length (bp)" help="Length of the first read in a pair (left read)"/> - <param name="read2_length" type="integer" size="10" value="50" label="Read 2 length (bp)" help="Length of the second read in a pair (right read)"/> - <param name="sv_type" type="select" format="txt" label="Type of SV to detect"> - <option value="all">all types of SVs</option> - <option value="intra">intrachromosomal SVs only</option> - <option value="inter">interchromosomal SVs only</option> - </param> - - <conditional name="getLinks"> - <param name="linking" type="select" label="Linking procedure" help="Detection and isolation of links"> - <option value="linking">Yes</option> - <option value="">No, already done</option> - </param> - <when value=""> - <!-- do nothing here --> - </when> - <when value="linking"> - <param name="splitmate" label="Do you want to split the original mate file per chromosome for parallel computing?" type="boolean" truevalue="split" falsevalue="do_not_split" checked="True" help="Untick it if already done"/> - <param name="window_size" type="integer" size="20" value="3000" label="Window size (bp)" help="Equal to at least “2µ+2√2σ"/> - <param name="step_length" type="integer" size="20" value="250" label="Step length size (bp)" help="Equal to 1/2 or 1/4 of the window size"/> - </when> - </conditional> - - <conditional name="getFilteredLinks"> - <param name="filtering" type="select" label="Filtering procedure" help="Filtering of links according different parameters and thresholds"> - <option value="filtering">Yes</option> - <option value="">No</option> - </param> - <when value=""> - <!-- do nothing here --> - </when> - <when value="filtering"> - - <param name="splitlink" label="Do you want to split the original link file per chromosome for parallel computing?" type="boolean" truevalue="split" falsevalue="do_not_split" checked="False" help="Untick it if (the linking is) already done"/> - <param name="chromosomes" type="text" size="20" label="List of chromosome names to keep or exclude"/> - <param name="nb_pairs_threshold" type="integer" size="20" value="5" label="Minimum number of pairs in a cluster"/> - - <conditional name="filter1"> - <param name="strand_filtering" type="select" label="Strand filtering procedure"> - <option value="strand">Yes</option> - <option value="">No</option> - </param> - <when value=""> - <!-- do nothing here --> - </when> - <when value="strand"> - - <conditional name="filter2"> - <param name="order_filtering" type="select" label="Order filtering procedure"> - <option value="order">Yes</option> - <option value="">No</option> - </param> - <when value=""> - <!-- do nothing here --> - </when> - <when value="order"> - - <conditional name="filter3"> - <param name="insert_size_filtering" type="select" label="Insert-size filtering procedure"> - <option value="insert">Yes</option> - <option value="">No</option> - </param> - <when value=""> - <!-- do nothing here --> - </when> - <when value="insert"> - <param name="indel_sigma_threshold" type="float" size="20" value="3" label="Minimal number of sigma fold for the insert size filtering and to call insertions and deletions"/> - <param name="dup_sigma_threshold" type="float" size="20" value="3" label="minimal number of sigma fold for the insert size filtering to call tandem duplications"/> - <param name="singleton_sigma_threshold" type="float" size="20" value="4" label="Minimal number of sigma fold for the insert size filtering to call singletons" help="for Illumina mate-pairs only"/> - </when> - </conditional> - - <param name="mu_length" type="integer" size="20" value="3000" label="Mean insert size value (µ) of normally mapped mate-pairs, in bp"/> - <param name="sigma_length" type="integer" size="20" value="250" label="Calculated sd value (σ) from the distribution of normally mapped mate-pairs, in bp"/> - <param name="nb_pairs_order_threshold" type="integer" size="20" value="2" label="Minimal number of pairs in a subgroup of paired-end reads for balanced events"/> - </when> - </conditional> - - <param name="final_score_threshold" type="float" size="20" value="1.0" label="Minimal final filtering score for calling SVs" help="A value of 1 means all the pairs in a cluster were consistent between each other after applying filters"/> - </when> - </conditional> - - <param name="links2SV" label="Do you want to have filtered links in a tabulated file format showing significant SVs?" type="boolean" truevalue="create" falsevalue="do_not_create" checked="True"/> - - <conditional name="file_conversion"> - <param name="file_conversion_select" type="select" label="Output file conversion" help="Converts filtered links to Circos/BED files format for graphical view of SVs"> - <option value="do_not_convert">No</option> - <option value="convert">Yes</option> - </param> - <when value="do_not_convert"> - <!-- do nothing here --> - </when> - <when value="convert"> - <param name="links2circos" label="Converts the link list to the Circos link format" type="boolean" truevalue="create" falsevalue="do_not_create" checked="True"/> - <param name="links2bed" label="Converts the link list to the UCSC BED format" type="boolean" truevalue="create" falsevalue="do_not_create" checked="False"/> - <param name="organism_id" type="text" size="10" value="hs" label="Organism ID"/> - <repeat name="color_code" title="Color-code" min="1" max="7"> - <param name="color" type="select" label="Color"> - <option value="grey">grey</option> - <option value="black">black</option> - <option value="blue">blue</option> - <option value="green">green</option> - <option value="purple">purple</option> - <option value="orange">orange</option> - <option value="red">red</option> - </param> - <param name="interval" type="text" value="1,3" label="Interval"/> - </repeat> - </when> - </conditional> - </when> - </conditional> -</inputs> - - -<outputs> - <!--<data format="txt" name="links_file" label="svdetect.links"> - <filter>getLinks['linking']=="linking"</filter> - </data> - <data format="txt" name="flinks_file" label="svdetect.links.filtered"> - <filter>getFilteredLinks['filtering']=="filtering"</filter> - </data>--> - <data format="sv" name="sv_file" label="${sample_name}.sv"> - <filter>( - getFilteredLinks['filtering']=="filtering" and - getFilteredLinks['links2SV'] is True - ) - </filter> - </data> - <data format="segdup" name="circos_file" label="${sample_name}.segdup"> - <filter>( - getFilteredLinks['filtering']=="filtering" and - getFilteredLinks['file_conversion']['file_conversion_select']=="convert" and - getFilteredLinks['file_conversion']['links2circos'] is True - ) - </filter> - </data> - <data format="bed" name="bed_file" label="${sample_name}.bed"> - <filter>( - getFilteredLinks['filtering']=="filtering" and - getFilteredLinks['file_conversion']['file_conversion_select']=="convert" and - getFilteredLinks['file_conversion']['links2bed'] is True - ) - </filter> - </data> - <data format="txt" name="log_file" label="${sample_name}.svdetect_run.log"/> -</outputs> - - - -<configfiles> - <configfile name="config_file"> -<general> -input_format = bam -sv_type = ${sv_type} -mates_orientation=${mates_orientation} -read1_length=${read1_length} -read2_length=${read2_length} -mates_file=${mates_file} -cmap_file=${cmap_file} -tmp_dir=$__new_file_path__/svdetect/tmp -output_dir=$__new_file_path__/svdetect -num_threads=8 -</general> - -#if $getLinks.linking == "linking" -<detection> -#if str($getLinks.splitmate) == "split" -split_mate_file=1 -#else -split_mate_file=0 -#end if -window_size=${getLinks.window_size} -step_length=${getLinks.step_length} -</detection> -#end if - -#if $getFilteredLinks.filtering == "filtering" -<filtering> -#if str($getFilteredLinks.splitlink) == "split" -split_link_file=1 -#else -split_link_file=0 -#end if -#if str($getFilteredLinks.chromosomes) != "" -chromosomes=${getFilteredLinks.chromosomes} -#end if -nb_pairs_threshold=${getFilteredLinks.nb_pairs_threshold} -#if $getFilteredLinks.filter1.strand_filtering == "strand" -strand_filtering=1 -final_score_threshold=${getFilteredLinks.filter1.final_score_threshold} -#if $getFilteredLinks.filter1.filter2.order_filtering == "order" -order_filtering=1 -mu_length=${getFilteredLinks.filter1.filter2.mu_length} -sigma_length=${getFilteredLinks.filter1.filter2.sigma_length} -nb_pairs_order_threshold=${getFilteredLinks.filter1.filter2.nb_pairs_order_threshold} -#if $getFilteredLinks.filter1.filter2.filter3.insert_size_filtering == "insert" -insert_size_filtering=1 -indel_sigma_threshold=${getFilteredLinks.filter1.filter2.filter3.indel_sigma_threshold} -dup_sigma_threshold=${getFilteredLinks.filter1.filter2.filter3.dup_sigma_threshold} -singleton_sigma_threshold=${getFilteredLinks.filter1.filter2.filter3.singleton_sigma_threshold} -#else -insert_size_filtering=0 -#end if -#else -order_filtering=0 -#end if -#else -strand_filtering=0 -#end if -</filtering> -#end if - -#if $getFilteredLinks.filtering == "filtering" -#if $getFilteredLinks.file_conversion.file_conversion_select == "convert" -#if str($getFilteredLinks.file_conversion.links2circos) == "create" -<circos> -organism_id=${getFilteredLinks.file_conversion.organism_id} -<colorcode> -#for $color_repeat in $getFilteredLinks.file_conversion.color_code -${color_repeat.color}=${color_repeat.interval} -#end for -</colorcode> -</circos> -#end if -#if str($getFilteredLinks.file_conversion.links2bed) == "create" -<bed> -<colorcode> -#for $color_repeat in $getFilteredLinks.file_conversion.color_code -#if str($color_repeat.color)== "grey" -190,190,190=${color_repeat.interval} -#end if -#if str($color_repeat.color)== "black" -0,0,0=${color_repeat.interval} -#end if -#if str($color_repeat.color)== "blue" -0,0,255=${color_repeat.interval} -#end if -#if str($color_repeat.color)== "green" -0,255,0=${color_repeat.interval} -#end if -#if str($color_repeat.color)== "purple" -153,50,205=${color_repeat.interval} -#end if -#if str($color_repeat.color)== "orange" -255,140,0=${color_repeat.interval} -#end if -#if str($color_repeat.color)== "red" -255,0,0=${color_repeat.interval} -#end if -#end for -</colorcode> -</bed> -#end if -#end if -#end if - </configfile> -</configfiles> - - <help> -**What it does** - -SVDetect - Version : 0.8 - -Parallel version (nCPU=8) - -SVDetect is a application for the isolation and the type prediction of intra- and inter-chromosomal rearrangements from paired-end/mate-pair sequencing data provided by the high-throughput sequencing technologies - -This tool aims to identifying structural variations (SVs) with both clustering and sliding-window strategies, and helping in their visualization at the genome scale. -SVDetect is compatible with SOLiD and Illumina (>=1.3) reads. - -Manual documentation available at the http://svdetect.sourceforge.net/Site/Manual.html - ------ - -.. class:: infomark - -Contact Bruno Zeitouni (bruno.zeitouni@curie.fr) for any questions or concerns about the Galaxy implementation of SVDetect. - - </help> - -</tool>