Mercurial > repos > artbio > lumpy_smoove
changeset 3:65b400409455 draft
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/lumpy_smoove commit c52939d44f8e8287ad4068949daadf616879f008"
author | artbio |
---|---|
date | Wed, 26 Aug 2020 12:24:07 -0400 |
parents | 49a8a327cc72 |
children | 49da975ba395 |
files | lumpy_smoove.xml test-data/celegans_1.bam test-data/celegans_2.bam test-data/celegans_RG_1.bam test-data/celegans_RG_2.bam test-data/result-1.vcf test-data/result-2.vcf test-data/result-3.vcf test-data/result-4.vcf |
diffstat | 9 files changed, 160 insertions(+), 70 deletions(-) [+] |
line wrap: on
line diff
--- a/lumpy_smoove.xml Wed Aug 26 05:48:01 2020 -0400 +++ b/lumpy_smoove.xml Wed Aug 26 12:24:07 2020 -0400 @@ -1,4 +1,4 @@ -<tool id="lumpy_smoove" name="lumpy_smoove" version="0.4.0"> +<tool id="lumpy_smoove" name="lumpy_smoove" version="0.5.0"> <description>find structural variants using the smoove workflow</description> <macros> <import>macro_lumpy_smoove.xml</import> @@ -14,17 +14,22 @@ @set_fasta_index@ ln -s $normal_bam normal.bam && ln -s $tumor_bam tumor.bam && - - smoove call -x --name output + samtools index -@ \${GALAXY_SLOTS:-4} normal.bam && + samtools index -@ \${GALAXY_SLOTS:-4} tumor.bam && + + smoove call --name output #if $set_exclusion.choices=="yes": --exclude $bedmask #end if - --fasta reference.fa -p \${GALAXY_SLOTS:-4} normal.bam tumor.bam && - gunzip output-smoove.vcf.gz - #if $prpos=="no": - && sed -i -E 's/;PRPOS=.+\tGT/\tGT/g' output-smoove.vcf - #end if - + --fasta reference.fa + --processes \${GALAXY_SLOTS:-4} + --genotype + #if $prpos=="no": + --removepr + #end if + normal.bam tumor.bam && + ls -latr && + gunzip output-smoove.genotyped.vcf.gz ]]></command> <inputs> @@ -49,52 +54,51 @@ </inputs> <outputs> - <data format="vcf" name="vcf_call" label="lumpy-smoove Variant Calling" from_work_dir="./output-smoove.vcf" /> + <data format="vcf" name="vcf_call" label="lumpy-smoove Variant Calling" from_work_dir="./output-smoove.genotyped.vcf" /> </outputs> <tests> <test> <param name="reference_source_selector" value="history" /> <param name="ref_file" value="chrI-ce11.fa"/> - <param name="normal_bam" value="celegans_1.bam"/> - <param name="tumor_bam" value="celegans_2.bam"/> + <param name="normal_bam" value="celegans_RG_1.bam"/> + <param name="tumor_bam" value="celegans_RG_2.bam"/> <param name="choices" value="yes"/> <param name="bedmask" value="exclude.bed"/> <param name="prpos" value="no"/> - <output name="vcf_call" ftype="vcf" file="result-1.vcf" lines_diff="4"/> + <output name="vcf_call" ftype="vcf" file="result-1.vcf" lines_diff="6"/> </test> <test> <param name="reference_source_selector" value="history" /> <param name="ref_file" value="chrI-ce11.fa"/> - <param name="normal_bam" value="celegans_1.bam"/> - <param name="tumor_bam" value="celegans_2.bam"/> + <param name="normal_bam" value="celegans_RG_1.bam"/> + <param name="tumor_bam" value="celegans_RG_2.bam"/> <param name="choices" value="no"/> <param name="prpos" value="no"/> - <output name="vcf_call" ftype="vcf" file="result-2.vcf" lines_diff="4"/> + <output name="vcf_call" ftype="vcf" file="result-2.vcf" lines_diff="6"/> </test> <test> <param name="reference_source_selector" value="history" /> <param name="ref_file" value="chrI-ce11.fa"/> - <param name="normal_bam" value="celegans_2.bam"/> - <param name="tumor_bam" value="celegans_1.bam"/> + <param name="normal_bam" value="celegans_RG_2.bam"/> + <param name="tumor_bam" value="celegans_RG_1.bam"/> <param name="choices" value="no"/> <param name="prpos" value="no"/> - <output name="vcf_call" ftype="vcf" file="result-3.vcf" lines_diff="4"/> + <output name="vcf_call" ftype="vcf" file="result-3.vcf" lines_diff="6"/> </test> <test> <param name="reference_source_selector" value="history" /> <param name="ref_file" value="chrI-ce11.fa"/> - <param name="normal_bam" value="celegans_1.bam"/> - <param name="tumor_bam" value="celegans_2.bam"/> + <param name="normal_bam" value="celegans_RG_1.bam"/> + <param name="tumor_bam" value="celegans_RG_2.bam"/> <param name="choices" value="no"/> <param name="prpos" value="yes"/> - <output name="vcf_call" ftype="vcf" file="result-4.vcf" lines_diff="4"/> + <output name="vcf_call" ftype="vcf" file="result-4.vcf" lines_diff="6"/> </test> </tests> <help> - **smoove** simplifies and speeds calling and genotyping SVs for short reads. It also improves specificity by removing many spurious alignment signals that are indicative of low-level noise and often contribute to spurious calls. @@ -105,17 +109,21 @@ Currently, this Galaxy tool only wraps smoove for 2 samples (bam normal and tumor inputs), which translates in the command line:: - <![CDATA[smoove call -x --name my-cohort --exclude $bed --fasta $fasta -p $threads /path/to/*.bam]]> + <![CDATA[smoove call --name my-cohort --exclude $bed --fasta $fasta -p $threads --genotype [--removepr] /path/to/*.bam]]> -Note that the --genotype option which allows to stream smoove to svtyper is not implemented -due to an error returned by svtyper in the smoove conda environment the --exclude $bed is highly recommended as it can be used to ignore reads that overlap problematic regions. -A good set of regions for GRCh37 is https://github.com/hall-lab/speedseq/blob/master/annotations/ceph18.b37.lumpy.exclude.2014-01-15.bed +A good set of regions for GRCh37 can be found here_ + +.. _here: https://github.com/hall-lab/speedseq/blob/master/annotations/ceph18.b37.lumpy.exclude.2014-01-15.bed + -And for hg38 https://github.com/hall-lab/speedseq/blob/master/annotations/exclude.cnvnator_100bp.GRCh38.20170403.bed +And a good set for GRCh38 can be found there_ + +.. _there: https://github.com/hall-lab/speedseq/blob/master/annotations/exclude.cnvnator_100bp.GRCh38.20170403.bed + smoove will:: @@ -130,20 +138,22 @@ size as required by lumpy. 4. stream output of lumpy directly into multiple svtyper processes for parallel-by-region - genotyping while lumpy is still running. This option in not currently implemented in Galaxy + genotyping while lumpy is still running. - 5. sort, compress, and index final VCF. + 5. sort, compress, and index final VCF (but this galaxy wrapper is uncompression the gzip_vcf output) **Input(s)** - -*BAM files*: One Bam for normal sample and one Bam for tumor sample. -Only BAM alignments produced by BWA-mem have been tested with this tool - -*A bed file* describing the regions to exclude from the analysis +* BAM files: One Bam for normal sample and one Bam for tumor sample. Only BAM alignments produced by BWA-mem have been tested with this tool + + .. class:: warningmark + + It is mandatory for proper run of svtyper that **BAM files contain read group information**, + ie the @RG tag is present and filled in each BAM -*Additional options*: refer to smoove GitHub repository_ and the lumpy publication (doi 10.1186/gb-2014-15-6-r84) +* A bed file describing the regions to exclude from the analysis +* Additional options*: refer to smoove GitHub repository_ and the lumpy publication (doi 10.1186/gb-2014-15-6-r84) .. _repository: https://github.com/brentp/smoove
--- a/test-data/result-1.vcf Wed Aug 26 05:48:01 2020 -0400 +++ b/test-data/result-1.vcf Wed Aug 26 12:24:07 2020 -0400 @@ -1,10 +1,7 @@ ##fileformat=VCFv4.2 -##contig=<ID=chrI,length=15072434> -##smoove_version=0.2.5 +##FILTER=<ID=PASS,Description="All filters passed"> +##fileDate=20200826 ##reference=reference.fa -##smoove_count_stats=tumor:2531,2421,134,276 -##smoove_count_stats=normal:2869,2691,194,304 -##source=LUMPY ##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant"> ##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="Difference in length between REF and ALT alleles"> ##INFO=<ID=END,Number=1,Type=Integer,Description="End position of the variant described in this record"> @@ -22,8 +19,6 @@ ##INFO=<ID=SR,Number=.,Type=Integer,Description="Number of split reads supporting the variant across all samples"> ##INFO=<ID=BD,Number=.,Type=Integer,Description="Amount of BED evidence supporting the variant across all samples"> ##INFO=<ID=EV,Number=.,Type=String,Description="Type of LUMPY evidence contributing to the variant call"> -##INFO=<ID=PRPOS,Number=.,Type=String,Description="LUMPY probability curve of the POS breakend"> -##INFO=<ID=PREND,Number=.,Type=String,Description="LUMPY probability curve of the END breakend"> ##ALT=<ID=DEL,Description="Deletion"> ##ALT=<ID=DUP,Description="Duplication"> ##ALT=<ID=INV,Description="Inversion"> @@ -35,5 +30,30 @@ ##FORMAT=<ID=PE,Number=1,Type=Integer,Description="Number of paired-end reads supporting the variant"> ##FORMAT=<ID=SR,Number=1,Type=Integer,Description="Number of split reads supporting the variant"> ##FORMAT=<ID=BD,Number=1,Type=Integer,Description="Amount of BED evidence supporting the variant"> -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT normal tumor -chrI 10416569 1 N <DUP> . . SVTYPE=DUP;STRANDS=-+:4;SVLEN=981;END=10417550;CIPOS=-769,29;CIEND=-30,636;CIPOS95=-165,8;CIEND95=-9,128;IMPRECISE;SU=4;PE=4;SR=0 GT:SU:PE:SR ./.:4:4:0 ./.:0:0:0 +##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype quality"> +##FORMAT=<ID=SQ,Number=1,Type=Float,Description="Phred-scaled probability that this site is variant (non-reference in this sample"> +##FORMAT=<ID=GL,Number=G,Type=Float,Description="Genotype Likelihood, log10-scaled likelihoods of the data given the called genotype for each possible genotype generated from the reference and alternate alleles given the sample ploidy"> +##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read depth"> +##FORMAT=<ID=RO,Number=1,Type=Integer,Description="Reference allele observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=AO,Number=A,Type=Integer,Description="Alternate allele observations, with partial observations recorded fractionally"> +##FORMAT=<ID=QR,Number=1,Type=Integer,Description="Sum of quality of reference observations"> +##FORMAT=<ID=QA,Number=A,Type=Integer,Description="Sum of quality of alternate observations"> +##FORMAT=<ID=RS,Number=1,Type=Integer,Description="Reference allele split-read observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=AS,Number=A,Type=Integer,Description="Alternate allele split-read observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=ASC,Number=A,Type=Integer,Description="Alternate allele clipped-read observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=RP,Number=1,Type=Integer,Description="Reference allele paired-end observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=AP,Number=A,Type=Integer,Description="Alternate allele paired-end observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=AB,Number=A,Type=Float,Description="Allele balance, fraction of observations from alternate allele, QA/(QR+QA)"> +##contig=<ID=chrI,length=15072434> +##smoove_version=0.2.5 +##smoove_count_stats=celegans-2:2531,2421,134,276 +##smoove_count_stats=celegans-1:2869,2691,194,304 +##source=LUMPY +##bcftools_annotateVersion=1.10.2+htslib-1.10.2 +##bcftools_annotateCommand=annotate -x INFO/PRPOS,INFO/PREND -Ou; Date=Wed Aug 26 16:53:42 2020 +##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes"> +##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> +##bcftools_viewVersion=1.10.2+htslib-1.10.2 +##bcftools_viewCommand=view -c 1 -Oz -c 1 -o output-smoove.genotyped.vcf.gz; Date=Wed Aug 26 16:53:42 2020 +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT celegans-1 celegans-2 +chrI 10416569 1 N <DUP> 170.7 . SVTYPE=DUP;SVLEN=981;END=10417550;STRANDS=-+:4;IMPRECISE;CIPOS=-769,29;CIEND=-30,636;CIPOS95=-165,8;CIEND95=-9,128;SU=4;PE=4;SR=0;AC=4;AN=4 GT:GQ:SQ:GL:DP:RO:AO:QR:QA:RS:AS:ASC:RP:AP:AB 1/1:16:130.28:-15,-4,-2:14:4:9:4:9:0:0:0:4:9:0.69 1/1:3:40.43:-4,-1,-1:7:4:3:4:3:0:0:0:4:3:0.43
--- a/test-data/result-2.vcf Wed Aug 26 05:48:01 2020 -0400 +++ b/test-data/result-2.vcf Wed Aug 26 12:24:07 2020 -0400 @@ -1,10 +1,7 @@ ##fileformat=VCFv4.2 -##contig=<ID=chrI,length=15072434> -##smoove_version=0.2.5 +##FILTER=<ID=PASS,Description="All filters passed"> +##fileDate=20200826 ##reference=reference.fa -##smoove_count_stats=tumor:2531,2421,156,296 -##smoove_count_stats=normal:2869,2691,202,330 -##source=LUMPY ##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant"> ##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="Difference in length between REF and ALT alleles"> ##INFO=<ID=END,Number=1,Type=Integer,Description="End position of the variant described in this record"> @@ -22,8 +19,6 @@ ##INFO=<ID=SR,Number=.,Type=Integer,Description="Number of split reads supporting the variant across all samples"> ##INFO=<ID=BD,Number=.,Type=Integer,Description="Amount of BED evidence supporting the variant across all samples"> ##INFO=<ID=EV,Number=.,Type=String,Description="Type of LUMPY evidence contributing to the variant call"> -##INFO=<ID=PRPOS,Number=.,Type=String,Description="LUMPY probability curve of the POS breakend"> -##INFO=<ID=PREND,Number=.,Type=String,Description="LUMPY probability curve of the END breakend"> ##ALT=<ID=DEL,Description="Deletion"> ##ALT=<ID=DUP,Description="Duplication"> ##ALT=<ID=INV,Description="Inversion"> @@ -35,5 +30,30 @@ ##FORMAT=<ID=PE,Number=1,Type=Integer,Description="Number of paired-end reads supporting the variant"> ##FORMAT=<ID=SR,Number=1,Type=Integer,Description="Number of split reads supporting the variant"> ##FORMAT=<ID=BD,Number=1,Type=Integer,Description="Amount of BED evidence supporting the variant"> -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT normal tumor -chrI 10416569 1 N <DUP> . . SVTYPE=DUP;STRANDS=-+:4;SVLEN=981;END=10417550;CIPOS=-769,29;CIEND=-30,636;CIPOS95=-165,8;CIEND95=-9,128;IMPRECISE;SU=4;PE=4;SR=0 GT:SU:PE:SR ./.:4:4:0 ./.:0:0:0 +##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype quality"> +##FORMAT=<ID=SQ,Number=1,Type=Float,Description="Phred-scaled probability that this site is variant (non-reference in this sample"> +##FORMAT=<ID=GL,Number=G,Type=Float,Description="Genotype Likelihood, log10-scaled likelihoods of the data given the called genotype for each possible genotype generated from the reference and alternate alleles given the sample ploidy"> +##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read depth"> +##FORMAT=<ID=RO,Number=1,Type=Integer,Description="Reference allele observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=AO,Number=A,Type=Integer,Description="Alternate allele observations, with partial observations recorded fractionally"> +##FORMAT=<ID=QR,Number=1,Type=Integer,Description="Sum of quality of reference observations"> +##FORMAT=<ID=QA,Number=A,Type=Integer,Description="Sum of quality of alternate observations"> +##FORMAT=<ID=RS,Number=1,Type=Integer,Description="Reference allele split-read observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=AS,Number=A,Type=Integer,Description="Alternate allele split-read observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=ASC,Number=A,Type=Integer,Description="Alternate allele clipped-read observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=RP,Number=1,Type=Integer,Description="Reference allele paired-end observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=AP,Number=A,Type=Integer,Description="Alternate allele paired-end observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=AB,Number=A,Type=Float,Description="Allele balance, fraction of observations from alternate allele, QA/(QR+QA)"> +##contig=<ID=chrI,length=15072434> +##smoove_version=0.2.5 +##smoove_count_stats=celegans-2:2531,2421,156,296 +##smoove_count_stats=celegans-1:2869,2691,202,330 +##source=LUMPY +##bcftools_annotateVersion=1.10.2+htslib-1.10.2 +##bcftools_annotateCommand=annotate -x INFO/PRPOS,INFO/PREND -Ou; Date=Wed Aug 26 16:54:42 2020 +##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes"> +##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> +##bcftools_viewVersion=1.10.2+htslib-1.10.2 +##bcftools_viewCommand=view -c 1 -Oz -c 1 -o output-smoove.genotyped.vcf.gz; Date=Wed Aug 26 16:54:42 2020 +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT celegans-1 celegans-2 +chrI 10416569 1 N <DUP> 170.7 . SVTYPE=DUP;SVLEN=981;END=10417550;STRANDS=-+:4;IMPRECISE;CIPOS=-769,29;CIEND=-30,636;CIPOS95=-165,8;CIEND95=-9,128;SU=4;PE=4;SR=0;AC=4;AN=4 GT:GQ:SQ:GL:DP:RO:AO:QR:QA:RS:AS:ASC:RP:AP:AB 1/1:16:130.28:-15,-4,-2:14:4:9:4:9:0:0:0:4:9:0.69 1/1:3:40.43:-4,-1,-1:7:4:3:4:3:0:0:0:4:3:0.43
--- a/test-data/result-3.vcf Wed Aug 26 05:48:01 2020 -0400 +++ b/test-data/result-3.vcf Wed Aug 26 12:24:07 2020 -0400 @@ -1,10 +1,7 @@ ##fileformat=VCFv4.2 -##contig=<ID=chrI,length=15072434> -##smoove_version=0.2.5 +##FILTER=<ID=PASS,Description="All filters passed"> +##fileDate=20200826 ##reference=reference.fa -##smoove_count_stats=tumor:2869,2691,202,330 -##smoove_count_stats=normal:2531,2421,156,296 -##source=LUMPY ##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant"> ##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="Difference in length between REF and ALT alleles"> ##INFO=<ID=END,Number=1,Type=Integer,Description="End position of the variant described in this record"> @@ -22,8 +19,6 @@ ##INFO=<ID=SR,Number=.,Type=Integer,Description="Number of split reads supporting the variant across all samples"> ##INFO=<ID=BD,Number=.,Type=Integer,Description="Amount of BED evidence supporting the variant across all samples"> ##INFO=<ID=EV,Number=.,Type=String,Description="Type of LUMPY evidence contributing to the variant call"> -##INFO=<ID=PRPOS,Number=.,Type=String,Description="LUMPY probability curve of the POS breakend"> -##INFO=<ID=PREND,Number=.,Type=String,Description="LUMPY probability curve of the END breakend"> ##ALT=<ID=DEL,Description="Deletion"> ##ALT=<ID=DUP,Description="Duplication"> ##ALT=<ID=INV,Description="Inversion"> @@ -35,5 +30,30 @@ ##FORMAT=<ID=PE,Number=1,Type=Integer,Description="Number of paired-end reads supporting the variant"> ##FORMAT=<ID=SR,Number=1,Type=Integer,Description="Number of split reads supporting the variant"> ##FORMAT=<ID=BD,Number=1,Type=Integer,Description="Amount of BED evidence supporting the variant"> -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT normal tumor -chrI 10416569 1 N <DUP> . . SVTYPE=DUP;STRANDS=-+:4;SVLEN=981;END=10417550;CIPOS=-769,29;CIEND=-30,636;CIPOS95=-165,8;CIEND95=-9,128;IMPRECISE;SU=4;PE=4;SR=0 GT:SU:PE:SR ./.:0:0:0 ./.:4:4:0 +##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype quality"> +##FORMAT=<ID=SQ,Number=1,Type=Float,Description="Phred-scaled probability that this site is variant (non-reference in this sample"> +##FORMAT=<ID=GL,Number=G,Type=Float,Description="Genotype Likelihood, log10-scaled likelihoods of the data given the called genotype for each possible genotype generated from the reference and alternate alleles given the sample ploidy"> +##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read depth"> +##FORMAT=<ID=RO,Number=1,Type=Integer,Description="Reference allele observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=AO,Number=A,Type=Integer,Description="Alternate allele observations, with partial observations recorded fractionally"> +##FORMAT=<ID=QR,Number=1,Type=Integer,Description="Sum of quality of reference observations"> +##FORMAT=<ID=QA,Number=A,Type=Integer,Description="Sum of quality of alternate observations"> +##FORMAT=<ID=RS,Number=1,Type=Integer,Description="Reference allele split-read observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=AS,Number=A,Type=Integer,Description="Alternate allele split-read observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=ASC,Number=A,Type=Integer,Description="Alternate allele clipped-read observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=RP,Number=1,Type=Integer,Description="Reference allele paired-end observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=AP,Number=A,Type=Integer,Description="Alternate allele paired-end observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=AB,Number=A,Type=Float,Description="Allele balance, fraction of observations from alternate allele, QA/(QR+QA)"> +##contig=<ID=chrI,length=15072434> +##smoove_version=0.2.5 +##smoove_count_stats=celegans-2:2531,2421,156,296 +##smoove_count_stats=celegans-1:2869,2691,202,330 +##source=LUMPY +##bcftools_annotateVersion=1.10.2+htslib-1.10.2 +##bcftools_annotateCommand=annotate -x INFO/PRPOS,INFO/PREND -Ou; Date=Wed Aug 26 16:55:52 2020 +##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes"> +##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> +##bcftools_viewVersion=1.10.2+htslib-1.10.2 +##bcftools_viewCommand=view -c 1 -Oz -c 1 -o output-smoove.genotyped.vcf.gz; Date=Wed Aug 26 16:55:52 2020 +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT celegans-2 celegans-1 +chrI 10416569 1 N <DUP> 170.7 . SVTYPE=DUP;SVLEN=981;END=10417550;STRANDS=-+:4;IMPRECISE;CIPOS=-769,29;CIEND=-30,636;CIPOS95=-165,8;CIEND95=-9,128;SU=4;PE=4;SR=0;AC=4;AN=4 GT:GQ:SQ:GL:DP:RO:AO:QR:QA:RS:AS:ASC:RP:AP:AB 1/1:3:40.43:-4,-1,-1:7:4:3:4:3:0:0:0:4:3:0.43 1/1:16:130.28:-15,-4,-2:14:4:9:4:9:0:0:0:4:9:0.69
--- a/test-data/result-4.vcf Wed Aug 26 05:48:01 2020 -0400 +++ b/test-data/result-4.vcf Wed Aug 26 12:24:07 2020 -0400 @@ -1,10 +1,7 @@ ##fileformat=VCFv4.2 -##contig=<ID=chrI,length=15072434> -##smoove_version=0.2.5 +##FILTER=<ID=PASS,Description="All filters passed"> +##fileDate=20200826 ##reference=reference.fa -##smoove_count_stats=normal:2869,2691,202,330 -##smoove_count_stats=tumor:2531,2421,156,296 -##source=LUMPY ##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant"> ##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="Difference in length between REF and ALT alleles"> ##INFO=<ID=END,Number=1,Type=Integer,Description="End position of the variant described in this record"> @@ -35,5 +32,28 @@ ##FORMAT=<ID=PE,Number=1,Type=Integer,Description="Number of paired-end reads supporting the variant"> ##FORMAT=<ID=SR,Number=1,Type=Integer,Description="Number of split reads supporting the variant"> ##FORMAT=<ID=BD,Number=1,Type=Integer,Description="Amount of BED evidence supporting the variant"> -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT normal tumor -chrI 10416569 1 N <DUP> . . 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GT:SU:PE:SR ./.:4:4:0 ./.:0:0:0 +##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype quality"> +##FORMAT=<ID=SQ,Number=1,Type=Float,Description="Phred-scaled probability that this site is variant (non-reference in this sample"> +##FORMAT=<ID=GL,Number=G,Type=Float,Description="Genotype Likelihood, log10-scaled likelihoods of the data given the called genotype for each possible genotype generated from the reference and alternate alleles given the sample ploidy"> +##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read depth"> +##FORMAT=<ID=RO,Number=1,Type=Integer,Description="Reference allele observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=AO,Number=A,Type=Integer,Description="Alternate allele observations, with partial observations recorded fractionally"> +##FORMAT=<ID=QR,Number=1,Type=Integer,Description="Sum of quality of reference observations"> +##FORMAT=<ID=QA,Number=A,Type=Integer,Description="Sum of quality of alternate observations"> +##FORMAT=<ID=RS,Number=1,Type=Integer,Description="Reference allele split-read observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=AS,Number=A,Type=Integer,Description="Alternate allele split-read observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=ASC,Number=A,Type=Integer,Description="Alternate allele clipped-read observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=RP,Number=1,Type=Integer,Description="Reference allele paired-end observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=AP,Number=A,Type=Integer,Description="Alternate allele paired-end observation count, with partial observations recorded fractionally"> +##FORMAT=<ID=AB,Number=A,Type=Float,Description="Allele balance, fraction of observations from alternate allele, QA/(QR+QA)"> +##contig=<ID=chrI,length=15072434> +##smoove_version=0.2.5 +##smoove_count_stats=celegans-1:2869,2691,202,330 +##smoove_count_stats=celegans-2:2531,2421,156,296 +##source=LUMPY +##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes"> +##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> +##bcftools_viewVersion=1.10.2+htslib-1.10.2 +##bcftools_viewCommand=view -O z -c 1 -o output-smoove.genotyped.vcf.gz; Date=Wed Aug 26 16:57:03 2020 +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT celegans-1 celegans-2 +chrI 10416569 1 N <DUP> 170.7 . 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