TheJacksonLaboratory / LIRICAL

LIkelihood Ratio Interpretation of Clinical AbnormaLities
https://thejacksonlaboratory.github.io/LIRICAL/stable
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BENIGN_OR_LIKELY_BENIGN #586

Closed pnrobinson closed 1 year ago

pnrobinson commented 1 year ago

LIRICAL does not seem to be adequately downweighting variants that are frequeny (0.3) or are listed benign in CLinVar. In one recent example, the variant Pathogenicity score was 0.809 but it really should be much less