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mendelian.wdl 2.2KB

5 anos atrás
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  1. task mendelian {
  2. File LCL5_vcf
  3. File LCL6_vcf
  4. File LCL7_vcf
  5. File LCL8_vcf
  6. String LCL5_name
  7. String LCL6_name
  8. String LCL7_name
  9. String LCL8_name
  10. String family_name
  11. File ref_dir
  12. String fasta
  13. String docker
  14. String cluster_config
  15. String disk_size
  16. command <<<
  17. export LD_LIBRARY_PATH=/opt/htslib-1.9
  18. mkdir sister
  19. /opt/VBT-TrioAnalysis/vbt varcomp -called ${LCL5_vcf} -base ${LCL6_vcf} -ref ${ref_dir}/${fasta} -outDir sister -filter none
  20. mv sister/TPBase.vcf ${family_name}.sister.consistent.vcf
  21. mv sister/FP.vcf ${family_name}.LCL5.uniq.vcf
  22. mv sister/FN.vcf ${family_name}.LCL6.uniq.vcf
  23. mv sister/log.txt ${family_name}.sister.vbt.log.txt
  24. mkdir VBT
  25. /opt/VBT-TrioAnalysis/vbt mendelian -ref ${ref_dir}/${fasta} -mother ${LCL8_vcf} -father ${LCL7_vcf} -child ${family_name}.sister.consistent.vcf -outDir VBT -out-prefix ${family_name} --output-violation-regions
  26. cat VBT/${family_name}_trio.vcf | grep '#' | cut -f1-9,10 > mother_header
  27. cat VBT/${family_name}_trio.vcf | grep -v '#' | cut -f1-9,10 | grep 'MD=1' | grep -v '0/0' | cat mother_header - > ${LCL8_name}.sister.mendelian.gt.vcf
  28. cat VBT/${family_name}_trio.vcf | grep '#' | cut -f1-9,11 > father_header
  29. cat VBT/${family_name}_trio.vcf | grep -v '#' | cut -f1-9,11 | grep 'MD=1' | grep -v '0/0' | cat father_header - > ${LCL7_name}.sister.mendelian.gt.vcf
  30. cat VBT/${family_name}_trio.vcf | grep '#' | cut -f1-9,12 > twin_header
  31. cat VBT/${family_name}_trio.vcf | grep -v '#' | cut -f1-9,12 | grep 'MD=1' | grep -v '0/0' | cat header - > ${family_name}.twins.sister.mendelian.gt.vcf
  32. >>>
  33. runtime {
  34. docker:docker
  35. cluster: cluster_config
  36. systemDisk: "cloud_ssd 40"
  37. dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
  38. }
  39. output {
  40. File sister_consistent_vcf = "${family_name}.sister.consistent.vcf"
  41. File LCL5_uniq_vcf = "${family_name}.LCL5.uniq.vcf"
  42. File LCL6_uniq_vcf = "${family_name}.LCL6.uniq.vcf"
  43. File sister_log = "${family_name}.sister.vbt.log.txt"
  44. Array[File] vbt_mendelian = glob("VBT/*")
  45. File mother_vcf = "${LCL8_name}.sister.mendelian.gt.vcf"
  46. File father_vcf = "${LCL7_name}.sister.mendelian.gt.vcf"
  47. File twins_vcf = "${family_name}.twins.sister.mendelian.gt.vcf"
  48. }
  49. }