diff --git a/variants/cnvkit.sh b/variants/cnvkit.sh index f52e5057a4547f34d332bfd2595ebf3078b285d4..1898189e9d73654e9dd0782dfcabb4af4381d400 100755 --- a/variants/cnvkit.sh +++ b/variants/cnvkit.sh @@ -30,7 +30,7 @@ baseDir="`dirname \"$0\"`" if [[ -z $index_path ]] then - index_path='/project/shared/bicf_workflow_ref/human/GRCh38/clinseq_prj' + index_path='/project/shared/bicf_workflow_ref/human/GRCh38' fi # Check for mandatory options if [[ -z $pair_id ]] || [[ -z $sbam ]] @@ -51,13 +51,18 @@ echo "${targets}antitargets.bed" echo "${normals}" source /etc/profile.d/modules.sh -module load cnvkit/0.9.5 bedtools/2.26.0 +module load cnvkit/0.9.5 bedtools/2.26.0 samtools/gcc/1.8 bcftools/gcc/1.8 unset DISPLAY + +#samtools index ${sbam} +#bcftools mpileup --threads 10 -a 'INFO/AD,INFO/ADF,INFO/ADR,FORMAT/DP,FORMAT/SP,FORMAT/AD,FORMAT/ADF,FORMAT/ADR' -Ou -Q20 -d 99999 -C50 -f ${reffa} -t ${index_path}/NGSCheckMate.bed ${sbam} | bcftools call --threads 10 -vmO v -o common_variants.vcf + cnvkit.py coverage ${sbam} ${targets}targets.bed -o ${pair_id}.targetcoverage.cnn cnvkit.py coverage ${sbam} ${targets}antitargets.bed -o ${pair_id}.antitargetcoverage.cnn cnvkit.py fix ${pair_id}.targetcoverage.cnn ${pair_id}.antitargetcoverage.cnn ${normals} -o ${pair_id}.cnr cnvkit.py segment ${pair_id}.cnr -o ${pair_id}.cns cnvkit.py call ${pair_id}.cns -o ${pair_id}.call.cns +#cnvkit.py call ${pair_id}.cns -v common_variants.vcf -o ${pair_id}.ballelecall.cns cnvkit.py scatter ${pair_id}.cnr -s ${pair_id}.call.cns -t --segment-color "blue" -o ${pair_id}.cnv.scatter.pdf cut -f 1,2,3 ${pair_id}.call.cns | grep -v chrom | bedtools intersect -wao -b /project/shared/bicf_workflow_ref/human/GRCh38/cytoBand.txt -a stdin |cut -f 1,2,3,7 > ${pair_id}.cytoband.bed -perl $baseDir/filter_cnvkit.pl *.call.cns +perl $baseDir/filter_cnvkit.pl ${pair_id}.call.cns diff --git a/variants/itdseek.sh b/variants/itdseek.sh index 3f495695a35324ad4d92e73ee4564427048a3ab9..6d47a7aed25fe659c87ed284079ff6c286827b16 100755 --- a/variants/itdseek.sh +++ b/variants/itdseek.sh @@ -52,4 +52,4 @@ 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 | 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 - -Ov ${pair_id}.itdseek.vcf.gz | java -Xmx20g -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 - -Ov ${pair_id}.itdseek.vcf.gz | java -Xmx30g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config GRCh38.86 - |bgzip > ${pair_id}.itdseek_tandemdup.vcf.gz