populationgenomics / automated-interpretation-pipeline

Rare Disease variant prioritisation MVP
MIT License
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Small bug in application of MOI from PanelApp #303

Closed MattWellie closed 10 months ago

MattWellie commented 11 months ago

Some PanelApp genes are on chrX, but listed as Monoallelic (...). The logic as it is set up will perceieve that as Autosomal & Monoallelic, which will affect how the inheritance tests are applied. See AFF2.

Alter this behaviour so that the chrX genes are all given a Hemizygous MOI.