broadinstitute / genetic-prevalence-estimator

https://genie.broadinstitute.org/
BSD 3-Clause "New" or "Revised" License
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Add option to include gnomAD missense variants with high REVEL score to recommended variant lists #170

Closed rileyhgrant closed 5 months ago

rileyhgrant commented 9 months ago

Resolves #146

*Note that this is only for gnomAD v3, as gnomAD v2 is not annotated with REVEL scores.

Modifies the data pipeline to include the revel score from gnomAD v3 variants. Modifies the worker to when passed a certain flag, include gnomAD missense variants with a REVEL score >= 0.932. Adds UI options to let users include these variants when creating a recommended variant list.

Screenshot 2023-10-02 at 16 46 34