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TheJacksonLaboratory / LIRICAL

LIkelihood Ratio Interpretation of Clinical AbnormaLities
https://thejacksonlaboratory.github.io/LIRICAL/stable
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Gene score still not working #423

Closed pnrobinson closed 5 years ago

pnrobinson commented 5 years ago

Dias-2013-TRPS1-girl.json

TRICHORHINOPHALANGEAL SYNDROME, TYPE III gets rank 1 (we simulated TRICHORHINOPHALANGEAL SYNDROME, TYPE I), but both are the same gene. The gene score should be rank #1

pnrobinson commented 5 years ago

This was due to an old version of the exported phenopacket with ENTREZ instead of NCBIGene.