biokepi
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mutect dbsnp file gotchas
Just noting this in case it matters later, regarding the dbsnp_alt_url and dbsnp_broad_url defined here to be passed to mutect:
https://github.com/hammerlab/biokepi/blob/master/src/lib/run_environment.ml#L656-L657
- the
dbsnp_alt_urlis a dead link: ftp://ftp.ncbi.nlm.nih.gov/snp/organisms/human_9606/VCF/v4.0/00-All.vcf.gz - I think a copy of that file is available here: ftp://ftp.ncbi.nlm.nih.gov/snp/organisms/human_9606_b144_GRCh37p13/VCF/00-All.vcf.gz
- however,
dbsnp_alt_urlanddbsnp_broad_urlare not the same files. The broad URL gives a VCF with 61M records; the alt url gives one with 145M records.