Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

@inproceedings{Liu2013AnalysisOR,
  title={Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls},
  author={Li Liu and Aniko Sabo and Benjamin M. Neale and Uma Nagaswamy and Christine Stevens and Elaine T Lim and Corneliu Bodea and Donna M. Muzny and Jeffrey G. Reid and Eric D. Banks and Hillary Coon and Mark dePristo and Huyen H. Dinh and Tim Fennel and Jason A. Flannick and Stacey Bolk Gabriel and Kiran V Garimella and Shannon L Gross and Alicia Hawes and L. Ryan Lewis and Vladimir Makarov and Jared Maguire and Irene Newsham and Ryan Poplin and Stephan Ripke and Khalid Shakir and Kaitlin E. Samocha and Yuanqing Wu and Eric Boerwinkle and Joseph D. Buxbaum and Edwin H. Cook and Bernie J Devlin and Gerard D. Schellenberg and James S. Sutcliffe and Mark J. Daly and Richard A. Gibbs and Kathryn Roeder},
  booktitle={PLoS genetics},
  year={2013}
}
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 from different centers. This proved straightforward by filtering called variants by… CONTINUE READING
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