Specification profiles for sample-level or assay-level data

[ahwagner]

There are many common scenarios where VRS can be used to describe variation from assay data, but it is not intuitive to potential adopters what that might look like. I think it would be useful for us to start developing community "profiles" in the same vein as VA-spec profiles. These profiles could provide a means by which different communities reuse the same VRS building blocks to express complex, community-specific concepts.

Some example variant types we should consider are the VCF-style sample genotype record in germline analyses, the GISTIC segment copy number metric in cancer samples, gene panel results, etc.

Similar profiles may be considered for categorical concepts in Cat-VRS, e.g. the PGx Star Allele.