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ClinGen / gene-and-variant-curation-tools

ClinGen's gene and variant curation interfaces (GCI & VCI). Developed by Stanford ClinGen team.
https://curation.clinicalgenome.org/
MIT License
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Scoping adding gnomAD v4 FAF, GroupMax and read coverage to the VCI population tab #346

Open cgpreston opened 1 year ago

cgpreston commented 1 year ago

Sub-ticket for gnomAD v4 update https://github.com/ClinGen/gene-and-variant-curation-tools/issues/47

We've planned to use the filtering allele frequency data from gnomAD v4 in place of the HMAF for the VCI population tab.

Feedback from proxies on 6/24/24:

  1. Stick with the current table format
  2. Add in the grpmax genetic ancestry groups
  3. The homozygote counts could be removed if it's too large

Next step: Generate mockups

Slides: https://docs.google.com/presentation/d/1-rZf4ZpQ0SkuBkdZ6WZqfKCPaDF9rfDrf1IgQ1YCm0A/edit?pli=1#slide=id.g297f132bc0d_0_81 SP ticket: https://broadinstitute.atlassian.net/browse/CGSP-637