Germline & Somatic short variant discovery (SNVs + Indels) for WGS & WES.
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  1. task TNscope {
  2. String sample
  3. String SENTIEON_INSTALL_DIR
  4. String SENTIEON_LICENSE
  5. File tumor_deduped_bam
  6. File tumor_deduped_bam_index
  7. File tumor_recal_table
  8. File normal_deduped_bam
  9. File normal_deduped_bam_index
  10. File normal_recal_table
  11. String tumor_name
  12. String normal_name
  13. File ref_dir
  14. String fasta
  15. File dbsnp_dir
  16. String dbsnp
  17. File? regions
  18. Int? interval_padding
  19. File? pon_vcf
  20. String docker
  21. String cluster_config
  22. String disk_size
  23. command <<<
  24. set -o pipefail
  25. set -e
  26. export SENTIEON_LICENSE=${SENTIEON_LICENSE}
  27. nt=$(nproc)
  28. if [ ${regions} ]; then
  29. INTERVAL="--interval ${regions} --interval_padding ${interval_padding}"
  30. else
  31. INTERVAL=""
  32. fi
  33. if [ ${pon_vcf} ]; then
  34. PON="--pon ${pon_vcf}"
  35. ${SENTIEON_INSTALL_DIR}/bin/sentieon util vcfindex ${pon_vcf}
  36. else
  37. PON=""
  38. fi
  39. ${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt \
  40. -r ${ref_dir}/${fasta} $INTERVAL \
  41. -i ${tumor_deduped_bam} -q ${tumor_recal_table} \
  42. -i ${normal_deduped_bam} -q ${normal_recal_table} \
  43. --algo TNscope \
  44. --tumor_sample ${tumor_name} --normal_sample ${normal_name} \
  45. --dbsnp ${dbsnp_dir}/${dbsnp} \
  46. $PON \
  47. ${sample}.TNscope.TN.vcf
  48. >>>
  49. runtime {
  50. docker: docker
  51. cluster: cluster_config
  52. systemDisk: "cloud_ssd 40"
  53. dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
  54. }
  55. output {
  56. File TNscope_vcf= "${sample}.TNscope.TN.vcf"
  57. File TNscope_vcf_index = "${sample}.TNscope.TN.vcf.idx"
  58. }
  59. }