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_recaled_bam
  6. File tumor_recaled_bam_index
  7. File? normal_recaled_bam
  8. File? normal_recaled_bam_index
  9. String tumor_name
  10. String normal_name
  11. File ref_dir
  12. String fasta
  13. File dbsnp_dir
  14. String dbsnp
  15. File? regions
  16. Int? interval_padding
  17. File? pon_vcf
  18. String docker
  19. String cluster_config
  20. String disk_size
  21. command <<<
  22. set -o pipefail
  23. set -e
  24. export SENTIEON_LICENSE=${SENTIEON_LICENSE}
  25. nt=$(nproc)
  26. if [ ${regions} ]; then
  27. INTERVAL="--interval ${regions} --interval_padding ${interval_padding}"
  28. else
  29. INTERVAL=""
  30. fi
  31. if [ ${pon_vcf} ]; then
  32. PON="--pon ${pon_vcf}"
  33. ${SENTIEON_INSTALL_DIR}/bin/sentieon util vcfindex ${pon_vcf}
  34. else
  35. PON=""
  36. fi
  37. if [ ${normal_recaled_bam} ]; then
  38. INPUT="-i ${tumor_recaled_bam} -i ${normal_recaled_bam}"
  39. SAMPLE="--tumor_sample ${tumor_name} --normal_sample ${normal_name}"
  40. else
  41. INPUT="-i ${tumor_recaled_bam}"
  42. SAMPLE="--tumor_sample ${tumor_name}"
  43. fi
  44. ${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt -r ${ref_dir}/${fasta} \
  45. $INPUT \
  46. $INTERVAL \
  47. --algo TNscope \
  48. $SAMPLE \
  49. --dbsnp ${dbsnp_dir}/${dbsnp} \
  50. $PON \
  51. ${sample}.TNscope.vcf
  52. awk -F'\t' '{if(($1~"^#")||($1!~"^#" && $7=="PASS")){print $0}}' ${sample}.TNscope.vcf > ${sample}.TNscope.PASS.vcf
  53. >>>
  54. runtime {
  55. docker: docker
  56. cluster: cluster_config
  57. systemDisk: "cloud_ssd 40"
  58. dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
  59. }
  60. output {
  61. File TNscope_pass_vcf="${sample}.TNscope.PASS.vcf"
  62. File TNscope_vcf= "${sample}.TNscope.vcf"
  63. File TNscope_vcf_index = "${sample}.TNscope.vcf.idx"
  64. }
  65. }