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.

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2.1KB

  1. task Pindel {
  2. String sample_id
  3. File bam
  4. File bam_index
  5. File ref_dir
  6. String fasta
  7. String docker
  8. String cluster_config
  9. String disk_size
  10. command <<<
  11. set -o pipefail
  12. set -e
  13. mkdir ./pindel_result/
  14. mkdir ./input
  15. cp ${bam} ./input
  16. bam_file_name=`echo ${bam}|awk -F "/" '{print $NF}'`
  17. samtools index -@ 4 ./input/$bam_file_name
  18. java "-Xmx16G" -jar /software/picard/picard.jar CollectInsertSizeMetrics \
  19. -H ./pindel_result/${sample_id}_picard.pdf \
  20. -I ./input/$bam_file_name \
  21. -O ./pindel_result/${sample_id}_picard.txt
  22. temp_mean_insert_size=`cat pindel_result/${sample_id}_picard.txt|sed -n '8p'|cut -f 6|cut -d . -f 1`
  23. if [ $temp_mean_insert_size -lt 151 ];then
  24. mean_insert_size=151
  25. else
  26. mean_insert_size=`echo $temp_mean_insert_size`
  27. fi
  28. bam_file_name=`echo ${bam}|awk -F "/" '{print $NF}'`
  29. echo -e "./input/$bam_file_name\t$mean_insert_size\t${sample_id}" > ${sample_id}_config.txt
  30. pindel -i ${sample_id}_config.txt \
  31. -f ${ref_dir}/${fasta} \
  32. -o ./pindel_result/${sample_id} \
  33. -c all \
  34. -T 4 \
  35. -x 4 \
  36. -l \
  37. -B 0 \
  38. -M 3 \
  39. -J /software/picard/hg38_ucsc_centromere.bed
  40. grep "ChrID" pindel_result/${sample_id}_SI > pindel_result/${sample_id}_all_indel
  41. grep "ChrID" pindel_result/${sample_id}_D >> pindel_result/${sample_id}_all_indel
  42. awk -v chrID="chr1" '$8==chrID {print}' pindel_result/${sample_id}_all_indel > pindel_result/${sample_id}_indel
  43. for i in `seq 2 22` X Y M
  44. do
  45. awk -v chrID=chr$i '$8==chrID {print}' pindel_result/${sample_id}_all_indel >> pindel_result/${sample_id}_indel
  46. done
  47. pindel2vcf -r ${ref_dir}/${fasta} \
  48. -R GRCh38.d1.vd1 \
  49. -d GDC \
  50. -p pindel_result/${sample_id}_indel \
  51. -v pindel_result/${sample_id}.pindel.indel.vcf
  52. >>>
  53. runtime {
  54. docker: docker
  55. cluster: cluster_config
  56. systemDisk: "cloud_ssd 40"
  57. dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
  58. }
  59. output {
  60. Array[File] pindel_result = glob("./pindel_result/${sample_id}*")
  61. }
  62. }