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Include ClinVar xrefs in manual curation spreadsheet #429

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apriltuesday opened this issue May 14, 2024 · 0 comments
Open

Include ClinVar xrefs in manual curation spreadsheet #429

apriltuesday opened this issue May 14, 2024 · 0 comments

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@apriltuesday
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ClinVar provides xrefs within the XML, these end up in Zooma eventually but would be useful for curators and new term creation to have them available during the actual curation.

  • During trait processing for generating the manual curation spreadsheet, also extract xrefs from ClinVar
    • We could actually move the Zooma feedback from this step in evidence generation to here as well.
  • Include these xrefs & presence in EFO in the spreadsheet
    • Possibly also removing the "All mappings" as they seem rarely used
    • Can provide special columns for the most useful ontologies (MONDO, HP, Orphanet, OMIM, Medgen) and then list any others afterwards
  • Terms marked as NEW can have the relevant columns propagated to the new terms sheet
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