Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.

De novo mutations affect risk for many diseases and disorders, especially those with early-onset. An example is autism spectrum disorders (ASD). Four recent whole-exome sequencing (WES) studies of ASD families revealed a handful of novel risk genes, based on independent de novo loss-of-function (LoF...

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Bibliographic Details
Main Authors: Xin He, Stephan J Sanders, Li Liu, Silvia De Rubeis, Elaine T Lim, James S Sutcliffe, Gerard D Schellenberg, Richard A Gibbs, Mark J Daly, Joseph D Buxbaum, Matthew W State, Bernie Devlin, Kathryn Roeder
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3744441?pdf=render