VEP (Variant Effect Predictor) predicts the functional effects of genomic variants. The annotated VCF will be converted into MAF based on vcf2maf.
選択できるのは25トピックまでです。 トピックは、先頭が英数字で、英数字とダッシュ('-')を使用した35文字以内のものにしてください。

85 行
2.5KB

  1. task VEP {
  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. String vcf2maf_path
  14. String docker
  15. String cluster_config
  16. String disk_size
  17. command <<<
  18. set -o pipefail
  19. set -e
  20. nt=$(nproc)
  21. awk -F'\t' '{if(($1~"^#")||($1!~"^#" && $7=="PASS")){print $0}}' ${vcf} > ${basename}.PASS.vcf
  22. ncol=`awk -F'\t' '{if($1!~"^#"){print NF}}' ${basename}.PASS.vcf | uniq`
  23. if [ $ncol -lt 11 ]; then
  24. vcf2maf_ID="--tumor-id ${tumor_id} --normal-id ${normal_id}"
  25. else
  26. vcf2maf_ID="--tumor-id ${tumor_id}"
  27. fi
  28. # Extract the BND variants from VCF
  29. # awk -F'\t' '{if(($1~"^#")||($8!~".*SVTYPE=BND.*")){print $0}}' ${sample_id}.PASS.vcf > ${sample_id}.PASS.vcf2maf.vcf
  30. # awk -F'\t' '{if(($1~"^#")||($8~".*SVTYPE=BND.*")){print $0}}' ${sample_id}.PASS.vcf > ${sample_id}.INPUT.VEP.vcf
  31. # vcf2maf
  32. # perl ${vcf2maf_path}/vcf2maf.pl \
  33. # --input-vcf ${sample_id}.PASS.vcf2maf.vcf --output-maf ${basename}.maf \
  34. # --tumor-id ${tumor_id} --normal-id ${normal_id} \
  35. # --ref-fasta ${ref_dir}/${fasta} \
  36. # --vep-path ${vep_path} \
  37. # --vep-data ${cache} \
  38. # --ncbi-build ${ncbi_build} \
  39. # --species ${species} \
  40. # --vep-fork $nt
  41. # vep
  42. perl ${vep_path}/vep \
  43. --input_file ${basename}.PASS.vcf --output_file ${basename}.PASS.vep.vcf \
  44. --fasta ${ref_dir}/${fasta} \
  45. --dir ${cache} \
  46. --assembly ${ncbi_build} \
  47. --species ${species} \
  48. --fork $nt \
  49. --format vcf --vcf \
  50. --no_progress \
  51. --no_stats \
  52. --buffer_size 5000 \
  53. --sift b \
  54. --ccds --uniprot --hgvs --symbol --numbers --domains --gene_phenotype --canonical --protein --biotype --uniprot --tsl --variant_class --shift_hgvs 1 --check_existing --total_length --allele_number --no_escape --xref_refseq --failed 1 --flag_pick_allele --pick_order canonical,tsl,biotype,rank,ccds,length --force_overwrite --offline --pubmed --regulatory
  55. # vcf2maf
  56. perl ${vcf2maf_path}/vcf2maf.pl \
  57. --inhibit-vep \
  58. --input-vcf ${basename}.PASS.vep.vcf --output-maf ${basename}.PASS.maf \
  59. $vcf2maf_ID \
  60. --ref-fasta ${ref_dir}/${fasta} \
  61. --vep-fork $nt
  62. >>>
  63. runtime {
  64. docker: docker
  65. cluster: cluster_config
  66. systemDisk: "cloud_ssd 40"
  67. dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
  68. }
  69. output {
  70. File input_vcf = "${basename}.PASS.vcf"
  71. File vep_vcf = "${basename}.PASS.vep.vcf"
  72. File maf = "${basename}.PASS.maf"
  73. }
  74. }