EBIvariation / CMAT

ClinVar Mapping and Annotation Toolkit
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Add ability to use alternate target ontologies #407

Closed apriltuesday closed 6 months ago

apriltuesday commented 6 months ago

Summary of changes:

I tested the three pipelines using Mondo as the target ontology and it does work, though of course the output is less valuable as it's not backed by years of curation and feedback... One mildly interesting thing is that as HP terms are sometimes imported into Mondo, it will add this information to the ClinVar XML - e.g.

    <TraitSet Type="Disease" ID="20338">
      <Trait ID="22973" Type="Finding">
        <Name>
          <ElementValue Type="Preferred">Abnormality of neuronal migration</ElementValue>
          <XRef ID="HP:0002269" DB="Human Phenotype Ontology"/>
        </Name>
        <XRef ID="C1837249" DB="MedGen"/>
        <XRef Type="primary" ID="HP:0002269" DB="Human Phenotype Ontology"/>
        <XRef Type="secondary" ID="HP:0007317" DB="Human Phenotype Ontology"/>
        <XRef ID="HP:0002269" DB="MONDO" Status="annotated" providedBy="CMAT"/>
      </Trait>
    </TraitSet>