Annotation of genetic variants detected from human genome hg19 and hg38.
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  1. task annovar {
  2. File vcf
  3. String annotated_vcf = basename(vcf,".vcf")
  4. String hg
  5. File database
  6. String docker
  7. String cluster_config
  8. String disk_size
  9. command <<<
  10. set -o pipefail
  11. set -e
  12. nt=$(nproc)
  13. /installations/annovar/table_annovar.pl ${vcf} ${database} -buildver ${hg} -hgvs -out ${annotated_vcf} -remove -protocol refGene,cytoBand,genomicSuperDups,ljb26_all,dbnsfp35c,intervar_20180118,cosmic70,exac03,gnomad211_exome,clinvar_20200316 -operation g,r,r,f,f,f,f,f,f,f -nastring . -vcfinput -thread $nt
  14. >>>
  15. runtime {
  16. docker: docker
  17. cluster: cluster_config
  18. systemDisk: "cloud_ssd 40"
  19. dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
  20. }
  21. output {
  22. File avinput = "${annotated_vcf}.avinput"
  23. File multianno_txt = "${annotated_vcf}.multianno.txt"
  24. File multianno = "${annotated_vcf}.multianno.vcf"
  25. }
  26. }