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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Update criteria code strengths in the V3 VCI #41

Open wrightmw opened 3 years ago

wrightmw commented 3 years ago

There are several criteria code strengths changes that have been requested, there are three types of requests

  1. Add in code strengths that are part of the current framework (ex: PM6_VeryStrong, PS4_VeryStrong), replaced by #365
  2. Add in code strengths that are not part of the current framework (ex: BP4_Moderate), which requires specifications and changes to the VCI pathogenicity calculator.
  3. Remove code strengths that have been deprecated.
    • The first step is to identify how many curations are using the to-be-deprecated strengths, as that will drive how we need to resolve these as the deprecation occurrs. The VCI team will generate a list of current records already using the to-be-deprecated modifiers in the VCI, the proxy team will be responsible for following up with owners to address these and republish to the Erepo

Specified code changes were signed off by SVI on 3/4/2022, they need to be revisited as there are use cases not captured here (PM6 VeryStrong, BP4 Moderate): https://docs.google.com/spreadsheets/d/1heS9fPizdZt0_r6kgPqKKd1Gizm98b6cUUjRLqmD3MQ/edit#gid=0 https://docs.google.com/presentation/d/1UYvB21CUh_YltWdXskzbHHJKJFDlydHfHTpG4pIKnoY/edit#slide=id.g11809e98eef_0_6

SP ticket: https://broadinstitute.atlassian.net/browse/CGSP-159

Replaced https://github.com/ClinGen/clincoded/issues/2284

cgpreston commented 2 years ago

Requires more discussion

cgpreston commented 2 years ago

Final list of modifiers to be supported was signed off by the SVI as of March 4, 2022. Discussed was the need to widely publicise the changes when this is launched, specifically:

  1. Email the user base with an explanation.
  2. Briefly present at a biocurator meeting
  3. Use other platforms (twitter) to spread the word