Germline & Somatic short variant discovery (SNVs + Indels) for WGS & WES.
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  1. task TNseq {
  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 germline_resource
  14. File germline_resource_tbi
  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. ${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt \
  38. -r ${ref_dir}/${fasta} $INTERVAL \
  39. -i ${tumor_recaled_bam} -i ${normal_recaled_bam} \
  40. --algo TNhaplotyper2 \
  41. --tumor_sample ${tumor_name} --normal_sample ${normal_name} \
  42. --germline_vcf ${germline_resource} \
  43. $PON \
  44. ${sample}.TNseq.TN.tmp.vcf \
  45. --algo OrientationBias --tumor_sample ${tumor_name} \
  46. ${sample}.orientation \
  47. --algo ContaminationModel \
  48. --tumor_sample ${tumor_name} --normal_sample ${normal_name} \
  49. --vcf ${germline_resource} \
  50. --tumor_segments ${sample}.contamination.segments \
  51. ${sample}.contamination
  52. ${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt \
  53. -r ${ref_dir}/${fasta} \
  54. --algo TNfilter \
  55. --tumor_sample ${tumor_name} --normal_sample ${normal_name} \
  56. -v ${sample}.TNseq.TN.tmp.vcf \
  57. --contamination ${sample}.contamination \
  58. --tumor_segments ${sample}.contamination.segments \
  59. --orientation_priors ${sample}.orientation \
  60. ${sample}.TNseq.TN.vcf
  61. >>>
  62. runtime {
  63. docker: docker
  64. cluster: cluster_config
  65. systemDisk: "cloud_ssd 40"
  66. dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
  67. }
  68. output {
  69. File TNseq_vcf = "${sample}.TNseq.TN.vcf"
  70. File TNseq_vcf_index = "${sample}.TNseq.TN.vcf.idx"
  71. File TNseq_tmp_vcf = "${sample}.TNseq.TN.tmp.vcf"
  72. File TNseq_tmp_vcf_index = "${sample}.TNseq.TN.tmp.vcf.idx"
  73. File contamination = "${sample}.contamination"
  74. File contamination_segments = "${sample}.contamination.segments"
  75. File orientation = "${sample}.orientation"
  76. }
  77. }