GeneticsbioRxivPreprint
A novel PS4 criterion approach based on symptoms of rare diseases and in-house frequency data in a Bayesian framework.
You Kyung Cho, Dhong‐gun Won, Changwon Keum…·Byung‐Chul Lee
This paper introduces a Bayesian framework method called BayesianOR to improve the interpretation of genetic variants for PS4 criteria in rare diseases using in-house frequency data.
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