TheJacksonLaboratory / LIRICAL

LIkelihood Ratio Interpretation of Clinical AbnormaLities
https://thejacksonlaboratory.github.io/LIRICAL/stable
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ClinVar integration #592

Closed pnrobinson closed 1 year ago

pnrobinson commented 1 year ago

LIRICAL should imporve the approach to variants with ClinVar annotatoins. Currently, variants getting BENIGN or BENIGN_OR_LIKELY_BENIGN are still getting relatively high variant scores. The default should be to use the CLINVAR assessments by default.