VEP (Variant Effect Predictor) predicts the functional effects of genomic variants. The annotated VCF will be converted into MAF based on vcf2maf.
您最多选择25个主题 主题必须以字母或数字开头,可以包含连字符 (-),并且长度不得超过35个字符

53 行
1.1KB

  1. task vcf2maf {
  2. File vcf
  3. String sample_id
  4. String basename = basename(vcf,".vcf")
  5. String tumor_id
  6. String normal_id
  7. File ref_dir
  8. String fasta
  9. String vep_path
  10. File cache
  11. String ncbi_build
  12. String species
  13. Boolean only_pass
  14. String docker
  15. String cluster_config
  16. String disk_size
  17. command <<<
  18. set -o pipefail
  19. set -e
  20. nt=$(nproc)
  21. if [ only_pass ]; then
  22. awk -F'\t' '{if(($1~"^#")||($1!~"^#" && $7=="PASS")){print $0}}' ${vcf} > ${sample_id}.INPUT.vcf
  23. else
  24. cp ${vcf} ${sample_id}.INPUT.vcf
  25. fi
  26. perl /opt/mskcc-vcf2maf/vcf2maf.pl \
  27. --input-vcf ${sample_id}.INPUT.vcf --output-maf ${basename}.maf \
  28. --tumor-id ${tumor_id} --normal-id ${normal_id} \
  29. --ref-fasta ${ref_dir}/${fasta} \
  30. --vep-path ${vep_path} \
  31. --vep-data ${cache} \
  32. --ncbi-build ${ncbi_build} \
  33. --species ${species} \
  34. --vep-fork $nt
  35. >>>
  36. runtime {
  37. docker: docker
  38. cluster: cluster_config
  39. systemDisk: "cloud_ssd 40"
  40. dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
  41. }
  42. output {
  43. File input_vcf = "${sample_id}.INPUT.vcf"
  44. File maf = "${basename}.maf"
  45. }
  46. }