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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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Constraint scores in the Gene-centric tab #307

Open wrightmw opened 1 year ago

wrightmw commented 1 year ago

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

Constraint scores in the gene-centric tab are currently from ExAC via mygene.info. Note: based on discussion 2/22/24 with gnomAD product owner, v4 constraint scores are more "experimental" and are restricted to the autosomes. The guidance is to to stick with the v2 constraint scores.

Based on proxy call conversation on 6/24/2024:

  1. Preference is to update gene tab with gnomAD v2 constraint scores, and have a warning/guidance note about why it's v2 vs v4.
  2. Second suggestion is to remove the ExAC constraint scores entirely, given how old that dataset is.

Next step is to scope out adding in the gnomAD v2 constraint scores.

Slides: https://docs.google.com/presentation/d/1-rZf4ZpQ0SkuBkdZ6WZqfKCPaDF9rfDrf1IgQ1YCm0A/edit#slide=id.p

cgpreston commented 1 year ago

Relates to ticket #47

wrightmw commented 3 months ago

Switching to Bryan.... now this data will be brought in via the LDH