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Create classes from OMIM "INCLUDED" titles #183

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joeflack4 opened this issue Jan 15, 2025 · 1 comment
Open
5 tasks

Create classes from OMIM "INCLUDED" titles #183

joeflack4 opened this issue Jan 15, 2025 · 1 comment

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@joeflack4
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joeflack4 commented Jan 15, 2025

Overview

Background: Discussed at tech meeting today. This won't be something we can tackle yet for several months, at least.

Eventually, rather than having "INCLUDED" titles be ontologized as synonyms or special properties, we would like to create new Mondo term classes for each of them.

Sub-tasks

  • 1. omim
    • Change ontologization to classes
    • Consider if any components of the pipeline need to be tweaked. Will this have ramifications for Gene-Disease pipeline? E.g. we decided that if a gene was associated with 2+ phenotypes, but they had the same MIM, and all of them but 1 were "INCLUDED", we would keep a gene-disease association. We still want to do that?
  • 2. mondo-ingest: No change needed unless we want to invent a new prefix for these classes. Otherwise, slurp and subclass sync will automatically process them.
  • 3. mondo: Unless new prefixes invented, also not much to do here except apply the mondo-ingest pipelines and review.
@joeflack4 joeflack4 self-assigned this Jan 15, 2025
@joeflack4 joeflack4 changed the title Create classes from "INCLUDED" titles Create classes from OMIM "INCLUDED" titles Jan 15, 2025
@joeflack4 joeflack4 added the omim label Jan 15, 2025
@joeflack4
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@sabrinatoro I started a ticket for this even though we're not ready to tackle it yet. If this isn't the correct place for this, can move it to https://github.com/monarch-initiative/mondo/issues/

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