Germline & Somatic short variant discovery (SNVs + Indels) for WGS & WES.
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  1. {
  2. "tumor_fastq_1": "",
  3. "tumor_fastq_2": "",
  4. "fasta": "GRCh38.d1.vd1.fa",
  5. "ref_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
  6. "dbsnp": "dbsnp_146.hg38.vcf",
  7. "dbsnp_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
  8. "SENTIEON_INSTALL_DIR": "/opt/sentieon-genomics",
  9. "SENTIEON_LICENSE": "192.168.0.55:8990",
  10. "dbmills_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
  11. "db_mills": "Mills_and_1000G_gold_standard.indels.hg38.vcf",
  12. "hg": "hg38",
  13. "database": "oss://pgx-reference-data/annovar_hg38/",
  14. "germline_resource": "oss://pgx-reference-data/gnomAD/af-only-gnomad.v3.1.1.vcf.gz",
  15. "germline_resource_tbi": "oss://pgx-reference-data/gnomAD/af-only-gnomad.v3.1.1.vcf.gz.tbi",
  16. "regions": "oss://pgx-reference-data/bed/cbcga/S07604514_Padded.bed",
  17. "interval_padding": "0",
  18. "sentieon_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/sentieon-genomics:v202010.02",
  19. "varscan_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/varscan2:v2.4.3",
  20. "annovar_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/annovar:v2019.10",
  21. "tnseq_pon": "",
  22. "tnscope_pon": "",
  23. "disk_size": "200",
  24. "cluster_config": "OnDemand bcs.a2.3xlarge img-ubuntu-vpc",
  25. "haplotyper": false,
  26. "tnseq": false,
  27. "tnscope": false,
  28. "varscan": false
  29. }