From 40ddf5aa479eed2fa03fce842b08cf22411a18de Mon Sep 17 00:00:00 2001 From: Brandi Cantarel <brandi.cantarel@utsouthwestern.edu> Date: Thu, 29 Aug 2019 16:09:49 -0500 Subject: [PATCH] update pindel for comparison w/ itdseeker --- variants/itdseek.sh | 5 +++-- variants/parse_pindel.pl | 8 +++----- 2 files changed, 6 insertions(+), 7 deletions(-) diff --git a/variants/itdseek.sh b/variants/itdseek.sh index 4083928..cd245a9 100755 --- a/variants/itdseek.sh +++ b/variants/itdseek.sh @@ -50,6 +50,7 @@ source /etc/profile.d/modules.sh module load samtools/gcc/1.8 snpeff/4.3q vcftools/0.1.14 htslib/gcc/1.8 bcftools/gcc/1.8 bedtools/2.26.0 stexe=`which samtools` -samtools view -@ $SLURM_CPUS_ON_NODE -L ${itdbed} ${sbam} | /project/shared/bicf_workflow_ref/seqprg/itdseek-1.2/itdseek.pl --refseq ${reffa} --samtools ${stexe} --bam ${sbam} | vcf-sort |bgzip > ${pair_id}.itdseek.vcf.gz +samtools view -@ $SLURM_CPUS_ON_NODE -L ${itdbed} ${sbam} | /project/shared/bicf_workflow_ref/seqprg/itdseek-1.2/itdseek.pl --refseq ${reffa} --samtools ${stexe} --bam ${sbam} | vcf-sort | bedtools intersect -header -b ${itdbed} -a stdin | bgzip > ${pair_id}.itdseek.vcf.gz tabix ${pair_id}.itdseek.vcf.gz -bcftools norm --fasta-ref $reffa -m - -Oz ${pair_id}.itdseek.vcf.gz | bedtools intersect -header -b ${itdbed} -a stdin | java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config GRCh38.86 - |bgzip > ${pair_id}.itdseek_tandemdup.vcf.gz +bcftools norm --fasta-ref $reffa -m - -Oz ${pair_id}.itdseek.vcf.gz | java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config GRCh38.86 - |bgzip > ${pair_id}.itdseek_tandemdup.vcf.gz + diff --git a/variants/parse_pindel.pl b/variants/parse_pindel.pl index 79c0e23..79e64f0 100755 --- a/variants/parse_pindel.pl +++ b/variants/parse_pindel.pl @@ -75,16 +75,14 @@ while (my $line = <VCF>) { push @newgts, join(":",$gtdata{GT},$gtdata{DP},$gtdata{AD},$gtdata{AO},$gtdata{RO}); } next if ($missingGT == scalar(@gts)); - + if ($hash{SVTYPE} eq 'DUP:TANDEM') { - print DUP join("\t",$chrom,$pos,$id,'N','<DUP>',$score,$filter,$annot,$newformat,@newgts),"\n"; - }elsif ($hash{SVTYPE} eq 'INS') { - print SV join("\t",$chrom,$pos,$id,'N','<INS>',$score,$filter,$annot,$newformat,@newgts),"\n"; + print DUP join("\t",$chrom,$pos,$id,$ref,$alt,$score,$filter,$annot,$newformat,@newgts),"\n"; }elsif ($hash{SVTYPE} eq 'DEL' || $hash{SVTYPE} eq 'INS') { if (abs($hash{SVLEN}) < 50) { print SI join("\t",$chrom,$pos,$id,$ref,$alt,$score,$filter,$annot,$newformat,@newgts),"\n"; }else { - $newalt = "<".$hash{SVTYPE}.">"; + $newalt = "<".$hash{SVTYPE}.">"; print SV join("\t",$chrom,$pos,$id,'N',$newalt,$score,$filter,$annot,$newformat,@newgts),"\n"; } } -- GitLab