A framework for the interpretation of de novo mutation in human disease

Nature Genetics - Tập 46 Số 9 - Trang 944-950 - 2014
Kaitlin E. Samocha1, Elise Robinson1, Stephan Sanders2, Christine Stevens3, Aniko Sabo4, Lauren M. McGrath5, Jack A. Kosmicki1, Karola Rehnström6, Swapan Mallick7, Andrew Kirby1, Dennis P. Wall8, Daniel G. MacArthur3, Stacey Gabriel3, Mark A. DePristo9, Shaun Purcell3, Aarno Palotie5, Eric Boerwinkle4, Joseph D. Buxbaum10, Edwin H. Cook11, Richard A. Gibbs4, Gerard D. Schellenberg12, James S. Sutcliffe13, Bernie Devlin14, Kathryn Roeder15, Benjamin M. Neale16, Mark J. Daly16
1Department of Medicine, Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
2Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut USA
3Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA
4Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA
5Department of Psychiatry, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
6Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland
7Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
8Center for Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, USA
9Synapdx, Lexington, Massachusetts, USA
10Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
11Department of Psychiatry, University of Illinois at Chicago, Chicago, Illinois USA
12Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
13Center for Molecular Neuroscience, Vanderbilt University, Nashville, Tennessee, USA
14Department of Psychiatry, University of Pittsburgh Medical School, Pittsburgh, Pennsylvania, USA
15Department of Statistics, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA
16Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA

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Nature Genetics

Tập 46 Số 9

944-950

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