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ejp-rd-vp / CDE-semantic-model

Semantic data model of the set of common data elements for rare disease registration
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HGNC ID substituted by GENE ID (edam uri) #128

Open brunasv opened 1 year ago

brunasv commented 1 year ago

before we had OMIM ID and HGNC ID, now you substituted HGNC ID with something broader Gene ID. Why keep OMIM (specific) but not keep HGNC?

pabloalarconm commented 1 year ago

Thanks @brunasv for your feedback We took this into account, but OMIM code can be used for gene and variant. So edam:Gene ID used for HGNC cant be reused for all OMIM cases, thats why we still using edam:OMIM ID term

pabloalarconm commented 1 year ago

Due to the heterogeneity of genetic identifiers (HGVS/OMIM/HGNC) with different purposes (variants/genes code), the new version is currently using NCIT:Genomic Identifier to describe the output of the genetic testing process