Open cmungall opened 8 years ago
Note that in addition to schema validation, we will want to do additional semantic validation (e.g. reasoning over the json-ld file #40) and also checking that any smuggled syntax such as that for HGVS variants ( #10 ) conform.
HGVS nomenclature checkers (add more here)
Re: HGVS, if possible, would be good to prompt users to provide the notation using a transcript as the base rather than an (unversioned) gene id. This per Mark Diekans.
Andrew McMurry recommends "a combination HGVS and Mutalyzer; If they both pass, then your are probably fine. If you need a third tool, NCBI variant reporter"
Dependent on #31