julesjacobsen
commented
8 years ago If you're mentiooning genotype, do we also want to take into account phasing? 0/1, 0|1, 1|0 etc.? Or is this going too far out of scope?
Do we want to strictly define hom, het and comp_het as types?
How much 'just a string' is enough and where do we stop before coming up with yet another standard?
It would be better to put the variant and the genotye into separate elements
Also, c.1601T>G is not yet correct HGVS. We also need to demand a transcript for instance. We should, at least in the future for our uber-phenopacket-widget, run something like Mutalyzer to check the mutation nomenclature, this is extremely important for interoperability!