Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Brian J. O’Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P. Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D. Smith, Emily H. Turner, Ian B. Stanaway, Benjamin Vernot, Maika Malig, Carl Baker, Beau Reilly, Joshua M. Akey, Elhanan Borenstein, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Jay Shendure () and Evan E. Eichler ()
Additional contact information
Brian J. O’Roak: University of Washington School of Medicine, Seattle, Washington 98195, USA
Laura Vives: University of Washington School of Medicine, Seattle, Washington 98195, USA
Santhosh Girirajan: University of Washington School of Medicine, Seattle, Washington 98195, USA
Emre Karakoc: University of Washington School of Medicine, Seattle, Washington 98195, USA
Niklas Krumm: University of Washington School of Medicine, Seattle, Washington 98195, USA
Bradley P. Coe: University of Washington School of Medicine, Seattle, Washington 98195, USA
Roie Levy: University of Washington School of Medicine, Seattle, Washington 98195, USA
Arthur Ko: University of Washington School of Medicine, Seattle, Washington 98195, USA
Choli Lee: University of Washington School of Medicine, Seattle, Washington 98195, USA
Joshua D. Smith: University of Washington School of Medicine, Seattle, Washington 98195, USA
Emily H. Turner: University of Washington School of Medicine, Seattle, Washington 98195, USA
Ian B. Stanaway: University of Washington School of Medicine, Seattle, Washington 98195, USA
Benjamin Vernot: University of Washington School of Medicine, Seattle, Washington 98195, USA
Maika Malig: University of Washington School of Medicine, Seattle, Washington 98195, USA
Carl Baker: University of Washington School of Medicine, Seattle, Washington 98195, USA
Beau Reilly: University of Washington, Seattle, Washington 98195, USA
Joshua M. Akey: University of Washington School of Medicine, Seattle, Washington 98195, USA
Elhanan Borenstein: University of Washington School of Medicine, Seattle, Washington 98195, USA
Mark J. Rieder: University of Washington School of Medicine, Seattle, Washington 98195, USA
Deborah A. Nickerson: University of Washington School of Medicine, Seattle, Washington 98195, USA
Raphael Bernier: University of Washington, Seattle, Washington 98195, USA
Jay Shendure: University of Washington School of Medicine, Seattle, Washington 98195, USA
Evan E. Eichler: University of Washington School of Medicine, Seattle, Washington 98195, USA

Nature, 2012, vol. 485, issue 7397, 246-250

Abstract: Exome sequencing on a large cohort of parent–child trios with sporadic autism spectrum disorders shows that de novo point mutations are mainly paternal in origin and positively correlate with paternal age, and identifies a highly interconnected network formed from the products of the most severe mutations.

Date: 2012
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DOI: 10.1038/nature10989

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