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Phenio toolkit #51

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souzadevinicius opened this issue May 12, 2023 · 0 comments
Open

Phenio toolkit #51

souzadevinicius opened this issue May 12, 2023 · 0 comments
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@souzadevinicius
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souzadevinicius commented May 12, 2023

We want to build a simple tool that allows us to construct specific pathways through the Phenio KG.
Pathways components include:

  • cross-species exact matches
  • cross-species semantic similarity threshold matches
  • genetic orthologs
  • anatomical homologs
  • gene to phenotype associations
  • phenotype trait generalisation
  • trait to measurement
  • etc

As a first basic pass, we want to:

  • create a package called phenio-toolkit with a simple CLI using Monarch cookiecutter
  • create a class to represent paths with methods to add specific associations
  • create at least one implementation of a conflict pathway (Monarch Default cross-species gene confirm pipeline )

For the basic method to work for IMPC gene use case, we need the following data:

  • MP HP Mappings
  • IMPC Gene HGNC Mappings
  • MP OBA Mappings
  • OBA EFO Mappings
  • EFO HGNC (GWAS)
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