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  1. task HRD {
  2. String sample
  3. File ref_dir
  4. String fasta
  5. File gc
  6. File tumor_bam
  7. File tumor_bam_index
  8. File? normal_bam
  9. File? normal_bam_index
  10. File? bed_file
  11. String docker
  12. String cluster_config
  13. String disk_size
  14. command <<<
  15. set -o pipefail
  16. set -e
  17. nt=$(nproc)
  18. seqz=${sample}'.seqz.gz'
  19. small=${sample}'.small.seqz.gz'
  20. # bam2seqz
  21. if [ ${normal_bam} ]; then
  22. sequenza-utils bam2seqz -gc ${gc} --fasta ${ref_dir}/${fasta} -n ${normal_bam} -t ${tumor_bam} -o $seqz -C chr1 chr2 chr3 chr4 chr5 chr6 chr7 chr8 chr9 chr10 chr11 chr12 chr13 chr14 chr15 chr16 chr17 chr18 chr19 chr20 chr21 chr22 chrX chrY --parallel 24
  23. else
  24. sequenza-utils bam2seqz -gc ${gc} --fasta ${ref_dir}/${fasta} -t ${tumor_bam} -o $seqz -C chr1 chr2 chr3 chr4 chr5 chr6 chr7 chr8 chr9 chr10 chr11 chr12 chr13 chr14 chr15 chr16 chr17 chr18 chr19 chr20 chr21 chr22 chrX chrY --parallel 24
  25. fi
  26. # merge and remove
  27. zcat ${sample}_*.seqz.gz | awk '{if (NR == 1 || (NR != 1 && $1 != "chromosome")) {print $0}}' | bgzip > $seqz
  28. tabix -f -s 1 -b 2 -e 2 -S 1 $seqz
  29. rm ${sample}_*.seqz.gz; rm ${sample}_*.seqz.gz.tbi
  30. # seqz_binning: WES: 50; WGS: 200
  31. if [ ${bed_file} ]; then
  32. sequenza-utils seqz_binning --seqz $seqz -w 50 -o $small
  33. else
  34. sequenza-utils seqz_binning --seqz $seqz -w 200 -o $small
  35. fi
  36. # analysis in r
  37. Rscript /home/sequenza/sequenza.r '.' ${sample} 'XY'
  38. >>>
  39. runtime {
  40. docker: docker
  41. cluster: cluster_config
  42. systemDisk: "cloud_ssd 40"
  43. dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
  44. }
  45. output {
  46. File hrd="${sample}.HRD.txt"
  47. File alternative_fit="${sample}_alternative_fit.pdf"
  48. File alternative_solutions="${sample}_alternative_solutions.txt"
  49. File chromosome_depths="${sample}_chromosome_depths.pdf"
  50. File chromosome_view="${sample}_chromosome_view.pdf"
  51. File CN_bars="${sample}_CN_bars.pdf"
  52. File confints_CP="${sample}_confints_CP.txt"
  53. File contours_CP="${sample}_contours_CP.pdf"
  54. File CP_contours="${sample}_CP_contours.pdf"
  55. File gc_plots="${sample}_gc_plots.pdf"
  56. File genome_view="${sample}_genome_view.pdf"
  57. File model_fit="${sample}_model_fit.pdf"
  58. File mutations="${sample}_mutations.txt"
  59. File scarHRD_input="${sample}_scarHRD_input.txt"
  60. File segments="${sample}_segments.txt"
  61. File sequenza_cp_table="${sample}_sequenza_cp_table.RData"
  62. File sequenza_extract="${sample}_sequenza_extract.RData"
  63. File sequenza_log="${sample}_sequenza_log.txt"
  64. File small_seqz="${sample}.small.seqz.gz"
  65. File small_seqz_index="${sample}.small.seqz.gz.tbi"
  66. }
  67. }