Article
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
PLoS genetics - 1 Apr 2013
Liu Li, Sabo Aniko, Neale Benjamin M, Nagaswamy Uma, Stevens Christine, Lim Elaine, Bodea Corneliu A, Muzny Donna, Reid Jeffrey G, Banks Eric, Coon Hillary, Depristo Mark, Dinh Huyen, Fennel Tim, Flannick Jason, Gabriel Stacey, Garimella Kiran, Gross Shannon, Hawes Alicia, Lewis Lora, Makarov Vladimir, Maguire Jared, Newsham Irene, Poplin Ryan, Ripke Stephan, Shakir Khalid, Samocha Kaitlin E, Wu Yuanqing, Boerwinkle Eric, Buxbaum Joseph D, Cook Edwin H, Devlin Bernie, Schellenberg Gerard D, Sutcliffe James S, Daly Mark J, Gibbs Richard A, Roeder Kathryn
Abstract excerpt
We report on results from whole-exome sequencing (WES) of 1,039 subjects diagnosed with autism spectrum disorders (ASD) and 870 controls selected from the NIMH repository to be of similar ancestry to cases. The WES data came from two centers using different methods to produce sequence and to call variants from it. Therefore, an initial goal was to ensure the distribution of rare variation was similar for data...
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