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Variant Call Format

2 点作者 melenaboija6 个月前

1 comment

MillironX6 个月前
VCF is, in my opinion, one of the nicest file formats in bioinformatics. It encodes the minimum amount of data needed to identify a variant call by default (unlike SAM for alignment, cough, cough) while being flexible enough to allow for complex chains of information to be encoded if you&#x27;re dealing with structural variant types of data. The &quot;chain of custody&quot; provided by FILTER fields and metadata lends itself to repeatable algorithms for variant calling. Plus, the spec is really clear and helpful.<p>It really surprises me how few tools take advantage of VCF for saving variant calls. As I recall, only about 1&#x2F;5 open source variant callers that I tested (this would have been mid-2021) actually spit out results in VCF. Other contenders were TSV and JSON outputs.