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Aim 1 - GREGoR search tools #2

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jsstevenson opened this issue Aug 16, 2024 · 0 comments

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epic

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jsstevenson commented Aug 16, 2024 •

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Search by variation

VRS ID
Coordinates?
Protein consequence?
Exon?
Domain?

Search by phenotype

Multiple phenotypes?
Similar phenotypes -- onto2vec?
Alternate code systems (eg disease ontologies/other phenotype ontologies, ICD codes)

jsstevenson added the epic label

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