# HG changeset patch # User saskia-hiltemann # Date 1438595116 14400 # Node ID 885ba15c25643bf78298b0b09096b84f8bd07f3f # Parent 1c6710924e800e8fe87d65162feaec3a72ee99df Uploaded diff -r 1c6710924e80 -r 885ba15c2564 JunctionDiff-vs-background.sh --- a/JunctionDiff-vs-background.sh Mon Aug 03 05:03:16 2015 -0400 +++ b/JunctionDiff-vs-background.sh Mon Aug 03 05:45:16 2015 -0400 @@ -20,7 +20,7 @@ --scoreThresholdA) scoreThresholdA=$2;shift;; --scoreThresholdB) scoreThresholdB=$2;shift;; --distance) distance=$2;shift;; - --minlength) minlength=$2;shift;; + --minlength) minlength=$2;shift;; -h) shift;; --) shift;break;; -*) usage;; diff -r 1c6710924e80 -r 885ba15c2564 JunctionDiff-vs-background.xml --- a/JunctionDiff-vs-background.xml Mon Aug 03 05:03:16 2015 -0400 +++ b/JunctionDiff-vs-background.xml Mon Aug 03 05:45:16 2015 -0400 @@ -1,4 +1,4 @@ - + Filter SVs based on presence in VN set @@ -9,32 +9,31 @@ JunctionDiff-vs-background.sh --variants $variants --reference ${reference.fields.reference_crr_cgatools} - #if $virtnorm.VNset == "diversity" - --VN_junctions ${reference.fields.VN_genomes_junctionfile_list} - #else - --VN_junctions ${reference.fields.VN_genomes_junctionfile_list_1000G} - #end if + --VN_junctions ${reference.fields.VN_genomes_junctionfile_list}${VNset} --cgatools_binary cgatools --outputfile_filtered $output_filtered --scoreThresholdA $scoreThresholdA --scoreThresholdB $scoreThresholdB --distance $distance - --minlength $minlength + --minlength $minlength + + - - - - - + + + + + + - - + + @@ -48,9 +47,9 @@ - - report == "Y" - + + report == "Y" + diff -r 1c6710924e80 -r 885ba15c2564 README.txt --- a/README.txt Mon Aug 03 05:03:16 2015 -0400 +++ b/README.txt Mon Aug 03 05:45:16 2015 -0400 @@ -7,7 +7,7 @@ - change "/path/to/hg18.crr" to the location of the Complete Genomics reference crr file on your system (can be downloaded from ftp://ftp.completegenomics.com/ReferenceFiles/ ) - - change "/path/to/VN_genomes_varfiles_hg18.txt" to the location of the file containing the locations of all the Complete Genomics + - change "/path/to/VN_genomes_varfiles_lists_hg18" to the location of the directory containing files with the locations of all the Complete Genomics varfiles to be used as a virtual normal. This file should contain 1 file location per line, e.g. /path/to/normal-varfile-1 @@ -20,10 +20,44 @@ /path/to/normal-varfile-8 ... - Varfiles can be in compressed or uncompressed form. For example, Complete Genomics' Diversity panel can be used. + - edit the tool xml file to offer sets of virtual normals + + [..] + + + + + + + + [..] + + the values indicate files expected to be at the location configured in the loc file, + + + So if your .loc file looks like this: + + + #loc file for annovar tool + + # value, dbkey, name, VN_genomes_varfiles_list, VN_genomes_junctionfile_list, reference_crr_cgatools + + hg18 hg18 Virtual Normal hg18 /path/to/VN_genomes_varfiles_lists_hg18 /path/to/VN_genomes_junctionfiles_lists_hg18 /path/to/hg18.crr + hg19 hg19 Virtual_Normal hg19 /path/to/VN_genomes_varfiles_lists_hg19 /path/to/VN_genomes_junctionfiles_lists_hg19 /path/to/hg19.crr + + And your xml file like the example above, then the tool expects the following files to exist: + /path/to/VN_genomes/varfiles_list_hg18/46_diversity.txt + /path/to/VN_genomes/varfiles_list_hg18/433_1000g.txt + etc + and containing a 1-per-line list of locations of the varfiles of the normal genomes. + + + + + Varfiles can be in compressed or uncompressed form. For example, Complete Genomics' Diversity panel can be used. (can be downloaded from ftp://ftp2.completegenomics.com/) - - change "/path/to/VN_genomes_junctionfiles_hg18.txt" to the location of the file containing the locations of all the Complete Genomics + - change "/path/to/VN_genomes_junctionfiles_lists_hg18" to the location of the file containing the locations of all the Complete Genomics junctionfiles to be used as a virtual normal. This file should contain 1 file location per line. For example, Complete Genomics' Diversity panel can be used. (can be downloaded from ftp://ftp2.completegenomics.com/) diff -r 1c6710924e80 -r 885ba15c2564 TV-vs-background.sh --- a/TV-vs-background.sh Mon Aug 03 05:03:16 2015 -0400 +++ b/TV-vs-background.sh Mon Aug 03 05:45:16 2015 -0400 @@ -26,6 +26,8 @@ done # replace newline chars with spaces for input to testvariants +echo "varfiles list: $VN_varfiles_list" + tr '\n' ' ' < $VN_varfiles_list > VN_varfiles.txt @@ -137,3 +139,4 @@ + diff -r 1c6710924e80 -r 885ba15c2564 TV-vs-background.xml --- a/TV-vs-background.xml Mon Aug 03 05:03:16 2015 -0400 +++ b/TV-vs-background.xml Mon Aug 03 05:45:16 2015 -0400 @@ -1,4 +1,4 @@ - + Filter small variants based on presence in Virtual Normal set @@ -9,15 +9,11 @@ TV-vs-background.sh --variants $variants --reference ${reference.fields.reference_crr_cgatools} - #if $virtnorm.VNset == "diversity": - --VN_varfiles ${reference.fields.VN_genomes_varfiles_list} - #else - --VN_varfiles ${reference.fields.VN_genomes_varfiles_list_1000G} - #end if + --VN_varfiles "${reference.fields.VN_genomes_varfiles_list}${VNset}" --threshold $threshold - --thresholdhc $thresholdhc + --thresholdhc $thresholdhc --outputfile_all $output_all - --outputfile_filtered $output_filtered + --outputfile_filtered $output_filtered @@ -25,34 +21,26 @@ - - + + - - - - - - - + + + + + + + + - - - - - + + + + diff -r 1c6710924e80 -r 885ba15c2564 tool-data/virtual_normal_correction.loc.sample --- a/tool-data/virtual_normal_correction.loc.sample Mon Aug 03 05:03:16 2015 -0400 +++ b/tool-data/virtual_normal_correction.loc.sample Mon Aug 03 05:45:16 2015 -0400 @@ -2,5 +2,5 @@ # value, dbkey, name, VN_genomes_varfiles_list, VN_genomes_junctionfile_list, reference_crr_cgatools -hg18 hg18 Virtual Normal hg18 /mnt/galaxyIndices/VirtualNormal/VN_genomes_varfiles_hg18.txt /mnt/galaxyIndices/VirtualNormal/VN_genomes_junctionfiles_hg18.txt /mnt/galaxyIndices/cgatools/build36.crr -hg19 hg19 Virtual Normal hg19 /mnt/galaxyIndices/VirtualNormal/VN_genomes_varfiles_hg19.txt /mnt/galaxyIndices/VirtualNormal/VN_genomes_junctionfiles_hg19.txt /mnt/galaxyIndices/cgatools/build37.crr +#hg18 hg18 Virtual Normal hg18 /path/to/VN_genomes_varfiles_lists_hg18 /path/to/VN_genomes_junctionfiles_lists_hg18 /path/to/hg18.crr +#hg19 hg19 Virtual_Normal hg19 /path/to/VN_genomes_varfiles_lists_hg19 /path/to/VN_genomes_junctionfiles_lists_hg19 /path/to/hg19.crr diff -r 1c6710924e80 -r 885ba15c2564 vcf2lv.sh --- a/vcf2lv.sh Mon Aug 03 05:03:16 2015 -0400 +++ b/vcf2lv.sh Mon Aug 03 05:45:16 2015 -0400 @@ -19,7 +19,7 @@ count=0; #output new header - print "variantId", "chromosome", "begin", "end", "varType", "reference", "alleleSeq", "xRef" + print "variantId", "chromosome", "begin", "end", "varType", "reference", "alleleSeq" }{ if(substr($0,1,1)!="#" && $5 != "."){ #skip header or nonvariant entries (period in ALT column) @@ -85,8 +85,7 @@ #print output variant(s) - if(chromosome != "chrM") - print count, chromosome, start, end, varType, reference, alleleSeq, "" + print count, chromosome, start, end, varType, reference, alleleSeq count+=1 } diff -r 1c6710924e80 -r 885ba15c2564 vcf2lv.xml --- a/vcf2lv.xml Mon Aug 03 05:03:16 2015 -0400 +++ b/vcf2lv.xml Mon Aug 03 05:45:16 2015 -0400 @@ -1,5 +1,5 @@ - virtual normal preprocessing - convert VCF file to CG-compatible variant list + convert VCF file to CG-compatible variant list vcf2lv.sh $vcffile $outputfile