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Modularize and update hpoa genes to phenotype ingest #792

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3 of 6 tasks
Tracked by #714
kevinschaper opened this issue Aug 16, 2024 · 0 comments
Open
3 of 6 tasks
Tracked by #714

Modularize and update hpoa genes to phenotype ingest #792

kevinschaper opened this issue Aug 16, 2024 · 0 comments
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@kevinschaper
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kevinschaper commented Aug 16, 2024

Primary goals:

  • Capture disease as qualifier (mapped to MONDO? or original? or both? there's no original_subject_qualifier)
  • Submit pr for "disease_context_qualifier" to be a slot for GeneToPhenotypicFeature
  • Display disease in UI (maybe an argument for mapping to MONDO?)
  • Capture frequency information that is passed on from the d2p association
  • Update association UI to show the frequency column for human g2p (currently only being shown for d2p)
  • Make it modular as a standalone repo/data product

I think there's an argument that all 3 hpo files that we produce could be part of the same ingest, but I don't know if it's worth it to do them all at once.

The big question is where to capture the disease as a qualifier and whether to use the original disease ID or map to mondo.

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