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populationgenomics / automated-interpretation-pipeline

Rare Disease variant prioritisation MVP
MIT License
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Tweaks to variant labelling #304

Closed MattWellie closed 11 months ago

MattWellie commented 11 months ago

From Slack:

Alter the Ambiguous Cat.1 MOI logic: Only apply when all of the following criteria fit

  1. Variant is Cat 1
  2. Variant is not Cat 4
  3. Variant does not qualify as any Recessive or X-Linked MOI

Additionally:

  1. Hard filter all Dominant variants to <0.01 in any gnomAD (i.e., no exemption for Cat. 1)
  2. Add F2 and F5 to the grey list