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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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Adding Mitochondrial Data in Variant-Type Tab #309

Open wrightmw opened 1 year ago

wrightmw commented 1 year ago

When a variant is mitochondrial , do not return the current predictors tables in the variant-type tab, but instead produce a table with the following predictors:

APOGEE (for protein-coding variants)

cgpreston commented 11 months ago

Discussion on 7/19/23 call while exploring using the LDH for this data:

  1. Sample data table displayed by Baylor team at call: https://docs.google.com/spreadsheets/d/1IZoDWRYrWxkT-RuKBycwzKmKR7-kPSGfAHoZaoi7Jr0/edit#gid=0
  2. Not all fields have been confirmed as correctly mapped yet by the Baylor team from the MseqDR API, that discussion is on-going
  3. Understanding the data refresh rate (curators needed frequency, and planned frequency by LDH) should be determined and communicated to curators. Baylor has a versioning plan but we need a few details and a plan to display that to curators.