Article
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution.
Human mutation - 1 May 2016
Salgado David, Desvignes Jean-Pierre, Rai Ghadi, Blanchard Arnaud, Miltgen Morgane, Pinard Amélie, Lévy Nicolas, Collod-Béroud Gwenaëlle, Béroud Christophe
Abstract excerpt
Whole-exome sequencing (WES) is increasingly applied to research and clinical diagnosis of human diseases. It typically results in large amounts of genetic variations. Depending on the mode of inheritance, only one or two correspond to pathogenic mutations responsible for the disease and present in affected individuals. Therefore, it is crucial to filter out nonpathogenic variants and limit downstream analysis to...
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