Article
A Bayesian method to estimate variant-induced disease penetrance.
PLoS genetics - 1 Jun 2020
Kroncke Brett M, Smith Derek K, Zuo Yi, Glazer Andrew M, Roden Dan M, Blume Jeffrey D
Abstract excerpt
A major challenge emerging in genomic medicine is how to assess best disease risk from rare or novel variants found in disease-related genes. The expanding volume of data generated by very large phenotyping efforts coupled to DNA sequence data presents an opportunity to reinterpret genetic liability of disease risk. Here we propose a framework to estimate the probability of disease given the presence of a genetic...
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