populationgenomics / automated-interpretation-pipeline

Rare Disease variant prioritisation MVP
MIT License
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Various updates to filtering #305

Closed MattWellie closed 11 months ago

MattWellie commented 11 months ago

Fixes

Proposed Changes

This takes the "does not qualify as any Recessive or X-Linked MOI" exclusions in #304 and reverses them - "we're only flagging Cat.1 non-de Novo variants with ambiguous MOIs, where we only satisfied an Autosomal Dominant MOI"

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