Germline & Somatic short variant discovery (SNVs + Indels) for WGS & WES.
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  1. {
  2. "fasta": "GRCh38.d1.vd1.fa",
  3. "ref_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
  4. "dbsnp": "dbsnp_146.hg38.vcf",
  5. "dbsnp_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
  6. "SENTIEON_INSTALL_DIR": "/opt/sentieon-genomics",
  7. "SENTIEON_LICENSE": "192.168.0.55:8990",
  8. "dbmills_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
  9. "db_mills": "Mills_and_1000G_gold_standard.indels.hg38.vcf",
  10. "sentieon_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/sentieon-genomics:v2019.11.28",
  11. "varscan_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/varscan2:v2.4.3",
  12. "annovar_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/annovar:v2018.04",
  13. "maftools_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/r-base:4.0.2",
  14. "bcftools_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/bcftools:v1.9",
  15. "database": "oss://pgx-reference-data/annovar_hg38/",
  16. "regions": "oss://pgx-reference-data/bed/cbcga/S07604514_Covered.bed",
  17. "set_pon": false,
  18. "pon_vcf": "",
  19. "cosmic_vcf": "CosmicCodingMuts.hg38.v91.vcf",
  20. "cosmic_dir": "oss://pgx-reference-data/reference/cosmic/",
  21. "disk_size": "200",
  22. "cluster_config": "OnDemand bcs.a2.3xlarge img-ubuntu-vpc",
  23. "germline": false,
  24. "tnseq": true,
  25. "tnscope": true,
  26. "varscan": true
  27. }