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Add pipeline to update gene links in Mondo #561

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sabrinatoro opened this issue Jun 10, 2024 · 2 comments
Open

Add pipeline to update gene links in Mondo #561

sabrinatoro opened this issue Jun 10, 2024 · 2 comments
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enhancement New feature or request omim

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@sabrinatoro
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The following axioms should be created/updated from OMIM:
'has material basis in germline mutation in' some GENE

  • gene-to-disease information from OMIM, based on rules discussed HERE (need to be updated, add document with requirements)

  • the pipeline should proceed as follow (based on discussions on 2024-06-05 technical call)

    1. remove all OMIM source annotations for axioms'has material basis in germline mutation in' some GENE
    2. based on OMIM EquivalentTo x-ref, add OMIM xref as source to existing 'has material basis in germline mutation in' some GENE axioms
    3. based on OMIM EquivalentTo x-ref, create new 'has material basis in germline mutation in' some GENE axioms, with OMIM x-ref as source when no axioms exist.
    4. FOR THE FIRST PASS: create a report with 'has material basis in germline mutation in' some GENE axiom which
      - do not have a source (curator to review and either remove the axiom or add source)
      - does have a source different from OMIM (curator to review)

QC checks:

  • report diseases that have more than one 'has material basis in germline mutation in' some GENE" axiom
  • report disease with 'has material basis in germline mutation in' some GENE axiom without a source annotation
@joeflack4 joeflack4 added omim enhancement New feature or request labels Jun 11, 2024
@joeflack4
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@matentzn Thanks for handling. I added to your / the board(s) as medium priority.

@joeflack4
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enhancement New feature or request omim
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