cmungall
commented
8 years ago Presumably the phenopacket would include some information about the entity being associated? E.g. a patient (corresponding to the VCF) or a variant (corresponding to a causal variant hypothesis derived in part from the VCF).
This could lead to some redundancy between the contents of the VCF and of the ppk. Which may be fine, just needs documented
Could VCF files have a file header that points at a phenopacket DOI? This could be nice and flexible as you could have other types of things you might want to point at, such as microbiome distribution, metabolomics, etc.
latest VCF format spec: https://samtools.github.io/hts-specs/VCFv4.2.pdf