diff --git a/variants/svcalling.sh b/variants/svcalling.sh index 77c2d2627f727b1f408577e79e05b0f50e7f4cf9..b3f72be12ff2a754db1a713b586cb56b2cf839e7 100755 --- a/variants/svcalling.sh +++ b/variants/svcalling.sh @@ -93,7 +93,7 @@ then if [[ $filter == 1 ]] then zgrep '#CHROM' ${pair_id}.delly.vcf.gz > ${pair_id}.delly.genefusion.txt - zcat ${pair_id}.delly.vcf.gz | $SNPEFF_HOME/scripts/vcfEffOnePerLine.pl |java -jar $SNPEFF_HOME/SnpSift.jar extractFields - CHROM POS CHR2 END ANN[*].EFFECT ANN[*].GENE ANN[*].BIOTYPE ANN[*].FEATUREID FILTER FORMAT GEN[*] |grep -E 'gene_fusion|feature_fusion' | sort -u >> ${pair_id}.delly.genefusion.txt + zcat ${pair_id}.delly.vcf.gz | $SNPEFF_HOME/scripts/vcfEffOnePerLine.pl |java -jar $SNPEFF_HOME/SnpSift.jar extractFields - CHROM POS CHR2 END ANN[*].EFFECT ANN[*].GENE ANN[*].BIOTYPE FILTER FORMAT GEN[*] |grep -E 'gene_fusion|feature_fusion' | sort -u >> ${pair_id}.delly.genefusion.txt fi elif [[ $method == 'svaba' ]] then @@ -104,16 +104,19 @@ then svaba run -p $NPROC -G ${reffa} -t ${sbam} -a ${pair_id} fi #Create SV FILE - vcf-concat ${pair_id}.svaba.unfiltered*sv.vcf ${pair_id}.svaba.unfiltered*indel.vcf | vcf-sort -t temp > svaba.sv.vcf - bgzip -f svaba.sv.vcf - tabix -f svaba.sv.vcf.gz - bash $baseDir/norm_annot.sh -r ${index_path} -p svaba.sv -v svaba.sv.vcf.gz -s - java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config ${snpeffgeno} svaba.sv.norm.vcf.gz | java -jar $SNPEFF_HOME/SnpSift.jar filter "( GEN[*].DP >= 20)" | bgzip > ${pair_id}.svaba.vcf.gz + bgzip -f ${pair_id}.svaba.unfiltered.sv.vcf + bash $baseDir/norm_annot.sh -r ${index_path} -p svaba.sv -v ${pair_id}.svaba.unfiltered.sv.vcf.gz + java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config ${snpeffgeno} svaba.sv.norm.vcf.gz | java -jar $SNPEFF_HOME/SnpSift.jar filter "( GEN[*].DP >= 20)" | bgzip > ${pair_id}.svaba.sv.vcf.gz + + java -jar $SNPEFF_HOME/SnpSift.jar filter "( SPAN >= 20)" ${pair_id}.svaba.unfiltered.indel.vcf |bgzip > ${pair_id}.svaba.indel.vcf.gz + bash $baseDir/norm_annot.sh -r ${index_path} -p svaba.indel -v ${pair_id}.svaba.indel.vcf.gz + java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config ${snpeffgeno} svaba.indel.norm.vcf.gz | bgzip > ${pair_id}.svaba.vcf.gz + if [[ $filter == 1 ]] then - zgrep '#CHROM' ${pair_id}.svaba.vcf.gz > ${pair_id}.svaba.genefusion.txt - zcat ${pair_id}.svaba.vcf.gz | $SNPEFF_HOME/scripts/vcfEffOnePerLine.pl |java -jar $SNPEFF_HOME/SnpSift.jar extractFields - CHROM POS ALT ID ANN[*].EFFECT ANN[*].GENE ANN[*].BIOTYPE ANN[*].FEATUREID FILTER FORMAT GEN[*] |grep -E 'gene_fusion|feature_fusion' | sort -u >> ${pair_id}.svaba.genefusion.txt + zgrep '#CHROM' ${pair_id}.svaba.sv.vcf.gz > ${pair_id}.svaba.genefusion.txt + zcat ${pair_id}.svaba.sv.vcf.gz | $SNPEFF_HOME/scripts/vcfEffOnePerLine.pl |java -jar $SNPEFF_HOME/SnpSift.jar extractFields - CHROM POS ALT ID ANN[*].EFFECT ANN[*].GENE ANN[*].BIOTYPE FILTER FORMAT GEN[*] |grep -E 'gene_fusion|feature_fusion' | sort -u >> ${pair_id}.svaba.genefusion.txt fi elif [[ $method == 'lumpy' ]] then @@ -165,7 +168,7 @@ then mv ${pair_id}.pindel.sv.pass.vcf ${pair_id}.pindel.sv.vcf bgzip ${pair_id}.pindel.sv.vcf zgrep '#CHROM' ${pair_id}.pindel.sv.vcf.gz > ${pair_id}.pindel.genefusion.txt - zcat ${pair_id}.pindel.sv.vcf.gz | $SNPEFF_HOME/scripts/vcfEffOnePerLine.pl |java -jar $SNPEFF_HOME/SnpSift.jar extractFields - CHROM POS CHROM END ANN[*].EFFECT ANN[*].GENE ANN[*].BIOTYPE ANN[*].FEATUREID FILTER FORMAT GEN[*] |grep -E 'gene_fusion|feature_fusion' | sort -u >> ${pair_id}.pindel.genefusion.txt + zcat ${pair_id}.pindel.sv.vcf.gz | $SNPEFF_HOME/scripts/vcfEffOnePerLine.pl |java -jar $SNPEFF_HOME/SnpSift.jar extractFields - CHROM POS CHROM END ANN[*].EFFECT ANN[*].GENE ANN[*].BIOTYPE FILTER FORMAT GEN[*] |grep -E 'gene_fusion|feature_fusion' | sort -u >> ${pair_id}.pindel.genefusion.txt fi elif [[ $method == 'itdseek' ]] then diff --git a/variants/uniform_vcf_gt.pl b/variants/uniform_vcf_gt.pl index 7b7a6f4814461fd8bf5a0ea380220cc802cbf612..f632945dc41aa0d9c07d44f1fff794a6ce44f76c 100755 --- a/variants/uniform_vcf_gt.pl +++ b/variants/uniform_vcf_gt.pl @@ -26,7 +26,16 @@ while (my $line = <VCF>) { foreach $a (split(/;/,$annot)) { my ($key,$val) = split(/=/,$a); $hash{$key} = $val; - } + } + if ($alt =~ m/^chr/) { + $chr2 =~ m/(chr\w+):(\d+)/; + $chr2=$1; + $p2 = $2; + $hash{CHR2} = $chr2; + $hash{'END'} = $p2; + $annot .= ";CHR2=$chr2;END=$p2"; + } + my @deschead = split(/:/,$format); my $newformat = 'GT:DP:AD:AO:RO'; my @newgts = ();