Article
A novel statistical method for interpreting the pathogenicity of rare variants.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2021
Wang Jun, Liu Hehe, Bertrand Renae Elaine, Sarrion-Perdigones Alejandro, Gonzalez Yezabel, Venken Koen J T, Chen Rui
Abstract excerpt
PURPOSE: To achieve the ultimate goal of personalized treatment of patients, accurate molecular diagnosis and precise interpretation of the impact of genetic variants on gene function is essential. With sequencing cost becoming increasingly affordable, the accurate distinguishing of benign from pathogenic variants becomes the major bottleneck. Although large normal population sequence databases have become a key...
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