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HGNC ID substituted by GENE ID (edam uri) #128

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brunasv opened this issue Dec 30, 2022 · 2 comments
Open

HGNC ID substituted by GENE ID (edam uri) #128

brunasv opened this issue Dec 30, 2022 · 2 comments
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@pabloalarconm
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Genetic diagnosis (Module) question Further information is requested

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@brunasv
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brunasv commented Dec 30, 2022

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?
@brunasv brunasv added question Further information is requested Genetic diagnosis (Module) labels Dec 30, 2022
@pabloalarconm
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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
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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

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Genetic diagnosis (Module) question Further information is requested
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