VEP (Variant Effect Predictor) predicts the functional effects of genomic variants. The annotated VCF will be converted into MAF based on vcf2maf.
Nevar pievienot vairāk kā 25 tēmas
Tēmai ir jāsākas ar burtu vai ciparu, tā var saturēt domu zīmes ('-') un var būt līdz 35 simboliem gara.
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- task vcf2maf {
-
- File vcf
- String basename = basename(vcf,".vcf")
- String tumor_id
- String normal_id
- File ref_dir
- String fasta
- String vep_path
- File cache
- String ncbi_build
- String species
- Boolean only_pass
- String docker
- String cluster_config
- String disk_size
-
-
- command <<<
- set -o pipefail
- set -e
- nt=$(nproc)
-
- if [ only_pass ]; then
- awk -F'\t' '{if(($1~"^#")||($1!~"^#" && $7=="PASS")){print $0}}' ${vcf} > INPUT.vcf
- else
- cp ${vcf} INPUT.vcf
- fi
-
- perl /opt/mskcc-vcf2maf/vcf2maf.pl \
- --input-vcf INPUT.vcf --output-maf ${basename}.maf \
- --tumor-id ${tumor_id} --normal-id ${normal_id} \
- --ref-fasta ${ref_dir}/${fasta} \
- --vep-path ${vep_path} \
- --vep-data ${cache} \
- --ncbi-build ${ncbi_build} \
- --species ${species} \
- --vep-fork $nt
- >>>
-
- runtime {
- docker: docker
- cluster: cluster_config
- systemDisk: "cloud_ssd 40"
- dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
- }
-
- output {
- File maf = "${basename}.maf"
- }
- }
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