Germline & Somatic short variant discovery (SNVs + Indels) for WGS & WES.
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  1. task TNhaplotyper2 {
  2. File ref_dir
  3. File dbsnp_dir
  4. String sample
  5. String SENTIEON_INSTALL_DIR
  6. String SENTIEON_LICENSE
  7. String tumor_name
  8. String normal_name
  9. String docker
  10. String cluster_config
  11. String fasta
  12. File germline_resource
  13. File tumor_recaled_bam
  14. File tumor_recaled_bam_index
  15. File tumor_recal_table
  16. File normal_recaled_bam
  17. File normal_recaled_bam_index
  18. File normal_recal_table
  19. File TNhaplotyper2_PoN
  20. String dbsnp
  21. String disk_size
  22. File regions
  23. command <<<
  24. set -o pipefail
  25. set -e
  26. export SENTIEON_LICENSE=${SENTIEON_LICENSE}
  27. nt=$(nproc)
  28. ${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt --interval ${regions} -r ${ref_dir}/${fasta} -i ${corealigner_bam} --algo TNhaplotyper2 --tumor_sample ${tumor_name} --normal_sample ${normal_name} --dbsnp ${dbsnp_dir}/${dbsnp} ${sample}.TNhaplotyper2.TN.vcf
  29. ${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt --interval ${regions} -r ${ref_dir}/${fasta} \
  30. -i ${tumor_recaled_bam} -q ${tumor_recal_table} \
  31. -i ${normal_recaled_bam} -q ${normal_recal_table} \
  32. --algo TNhaplotyper2 --tumor_sample ${tumor_name} \
  33. --normal_sample ${normal_name} \
  34. --germline_vcf ${germline_resource} \
  35. --pon ${TNhaplotyper2_PoN} \
  36. ${sample}.TNhaplotyper2.TN.tmp.vcf \
  37. --algo OrientationBias --tumor_sample ${tumor_name} \
  38. ORIENTATION_DATA \
  39. --algo ContaminationModel --tumor_sample ${tumor_name} \
  40. --normal_sample ${normal_name} \
  41. --vcf ${germline_resource} \
  42. --tumor_segments CONTAMINATION_DATA.segments \
  43. CONTAMINATION_DATA
  44. sentieon driver -r REFERENCE \
  45. --algo TNfilter --tumor_sample ${tumor_name} \
  46. --normal_sample ${normal_name} \
  47. -v ${sample}.TNhaplotyper2.TN.tmp.vcf \
  48. --contamination CONTAMINATION_DATA \
  49. --tumor_segments CONTAMINATION_DATA.segments \
  50. --orientation_priors ORIENTATION_DATA \
  51. ${sample}.TNhaplotyper2.TN.vcf
  52. >>>
  53. runtime {
  54. docker: docker
  55. cluster: cluster_config
  56. systemDisk: "cloud_ssd 40"
  57. dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
  58. }
  59. output {
  60. File TNhaplotyper2_vcf= "${sample}.TNhaplotyper2.TN.vcf"
  61. File TNhaplotyper2_vcf_index = "${sample}.TNhaplotyper2.TN.vcf.idx"
  62. }
  63. }