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
pirms 4 gadiem
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  1. task TNscope {
  2. File ref_dir
  3. File dbsnp_dir
  4. File? regions
  5. String sample
  6. String SENTIEON_INSTALL_DIR
  7. String SENTIEON_LICENSE
  8. String tumor_name
  9. String normal_name
  10. String docker
  11. String cluster_config
  12. String fasta
  13. File corealigner_bam
  14. File corealigner_bam_index
  15. String dbsnp
  16. String disk_size
  17. Boolean set_pon
  18. String? cosmic_vcf
  19. File? cosmic_dir
  20. File? pon_vcf
  21. String pon_command = if set_pon then "--pon /cromwell_root/tmp/PON/$(basename ${pon_vcf}) --cosmic /cromwell_root/tmp/PON/${cosmic_vcf}" else ""
  22. command <<<
  23. set -o pipefail
  24. set -e
  25. export SENTIEON_LICENSE=${SENTIEON_LICENSE}
  26. nt=$(nproc)
  27. if ${set_pon}; then
  28. mkdir -p /cromwell_root/tmp/PON/
  29. cp ${cosmic_dir}/${cosmic_vcf} /cromwell_root/tmp/PON/
  30. cp ${pon_vcf} /cromwell_root/tmp/PON/
  31. ${SENTIEON_INSTALL_DIR}/bin/sentieon util vcfindex /cromwell_root/tmp/PON/${cosmic_vcf}
  32. ${SENTIEON_INSTALL_DIR}/bin/sentieon util vcfindex /cromwell_root/tmp/PON/$(basename ${pon_vcf})
  33. fi
  34. if [ ${regions} != "" ]; then
  35. ${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt --interval ${regions} -r ${ref_dir}/${fasta} -i ${corealigner_bam} --algo TNscope --tumor_sample ${tumor_name} --normal_sample ${normal_name} --dbsnp ${dbsnp_dir}/${dbsnp} ${pon_command} ${sample}.TNscope.TN.vcf
  36. else
  37. ${SENTIEON_INSTALL_DIR}/bin/sentieon driver -t $nt -r ${ref_dir}/${fasta} -i ${corealigner_bam} --algo TNscope --tumor_sample ${tumor_name} --normal_sample ${normal_name} --dbsnp ${dbsnp_dir}/${dbsnp} ${pon_command} ${sample}.TNscope.TN.vcf
  38. fi
  39. >>>
  40. runtime {
  41. docker: docker
  42. cluster: cluster_config
  43. systemDisk: "cloud_ssd 40"
  44. dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
  45. }
  46. output {
  47. File TNscope_vcf= "${sample}.TNscope.TN.vcf"
  48. File TNscope_vcf_index = "${sample}.TNscope.TN.vcf.idx"
  49. }
  50. }