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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 for points-based ACMG (V4) guidelines in the VCI #262

Open cgpreston opened 1 year ago

cgpreston commented 1 year ago

As the ACMG/AMP guidelines and the VCI stand, variant classification is a categorical process. Groups are encouraged to move to a point system and with the impending release of a point-based classification system from ClinGen SVI and ACMG in the next year, the VCI is going to need to switch to this system.

This is a scoping ticket. For this ticket, the goals are to explore how this point-based system would generally work to begin implementation discussions for the VCI.

https://broadinstitute.atlassian.net/browse/CGSP-463

cgpreston commented 1 year ago

Tools call slide deck from Oct 2022: https://docs.google.com/presentation/d/1nUNoB14dXED0eEElH8SCesD3zVHjTNT85dKvQZ914CI/edit#slide=id.p