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Account for compound het variants #68

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yaseminbridges opened this issue Nov 5, 2024 · 0 comments · May be fixed by #69
Open

Account for compound het variants #68

yaseminbridges opened this issue Nov 5, 2024 · 0 comments · May be fixed by #69
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yaseminbridges commented Nov 5, 2024 •
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Compound het variants should have a grouping ID that indicates that they are compound het and so should be considered at the same rank without penalising.

For reference we consider a compound het variant to:

  • Occur in the same gene
  • Occur in a recessive mode of inheritance (AR/XR)
@yaseminbridges yaseminbridges self-assigned this Nov 5, 2024
@yaseminbridges yaseminbridges changed the title Account for compound heterzygous variants Account for compound het variants Nov 5, 2024
@yaseminbridges yaseminbridges linked a pull request Nov 6, 2024 that will close this issue
68 account for compound het variants #69
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68 account for compound het variants monarch-initiative/pheval.exomiser
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