clingen-data-model / clinvar-streams

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Analysis of ClinVar variations that are not handled by VRS #76

Closed larrybabb closed 1 year ago

larrybabb commented 1 year ago

Wes Goar and the metakb team are compiling a list of all variations from civic and clinvar that are not currently handled by VRS. This list is then used to understand the amount of associated content (evidence and/or statements that are of greater value - higher review status/confidence) so that it can help drive the prioritization of design work being slated for VRS going forward.

The Baylor team (Ronak Patel/Piotr Pawlicek) compiled a list of variations that were not convertible by the CAR a year or so ago that would provide a solid starting point for the ClinVar data. Larry and Wes will review that information along with the recent normalization cache results that Kyle has produced to determine which clinvar variations and associated content has a higher importance in being addressed by the VRS work going forward.