search

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
3 stars 1 forks source link

Investigate CADD discrepancy #74

Open cgpreston opened 3 years ago

cgpreston commented 3 years ago

Users are reporting differences in the CADD scores in the VCI (which we get from myvariant.info) and the scores on the CADD website.

We need to:

  1. Understand why the difference exists between the CADD site and myvariant.info.
  2. Figure out whether we need better messaging on the CADD values, or if we can get the CADD scores directly from the site.