Germline & Somatic short variant discovery (SNVs + Indels) for WGS & WES.
Nevar pievienot vairāk kā 25 tēmas Tēmai ir jāsākas ar burtu vai ciparu, tā var saturēt domu zīmes ('-') un var būt līdz 35 simboliem gara.

pirms 4 gadiem
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  1. task TNseq {
  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 germline_resource
  16. File germline_resource_tbi
  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 TNhaplotyper2 \
  44. --tumor_sample ${tumor_name} --normal_sample ${normal_name} \
  45. --germline_vcf ${germline_resource} \
  46. $PON \
  47. ${sample}.TNseq.TN.tmp.vcf \
  48. --algo OrientationBias --tumor_sample ${tumor_name} \
  49. ${sample}.orientation \
  50. --algo ContaminationModel \
  51. --tumor_sample ${tumor_name} --normal_sample ${normal_name} \
  52. --vcf ${germline_resource} \
  53. --tumor_segments ${sample}.contamination.segments \
  54. ${sample}.contamination
  55. ${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt \
  56. -r ${ref_dir}/${fasta} \
  57. --algo TNfilter \
  58. --tumor_sample ${tumor_name} --normal_sample ${normal_name} \
  59. -v ${sample}.TNseq.TN.tmp.vcf \
  60. --contamination ${sample}.contamination \
  61. --tumor_segments ${sample}.contamination.segments \
  62. --orientation_priors ${sample}.orientation \
  63. ${sample}.TNseq.TN.vcf
  64. >>>
  65. runtime {
  66. docker: docker
  67. cluster: cluster_config
  68. systemDisk: "cloud_ssd 40"
  69. dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
  70. }
  71. output {
  72. File TNseq_vcf = "${sample}.TNseq.TN.vcf"
  73. File TNseq_vcf_index = "${sample}.TNseq.TN.vcf.idx"
  74. File TNseq_tmp_vcf = "${sample}.TNseq.TN.tmp.vcf"
  75. File TNseq_tmp_vcf_index = "${sample}.TNseq.TN.tmp.vcf.idx"
  76. File contamination = "${sample}.contamination"
  77. File contamination_segments = "${sample}.contamination.segments"
  78. File orientation = "${sample}.orientation"
  79. }
  80. }