New Results
Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples
Jack A. Kosmicki, Kaitlin E. Samocha, Daniel P. Howrigan, Stephan J. Sanders, Kamil Slowikowski, Monkol Lek, Konrad J. Karczewski, David J. Cutler, Bernie Devlin, Kathryn Roeder, Joseph D. Buxbaum, Benjamin M. Neale, Daniel G. MacArthur, Dennis P. Wall, Elise B. Robinson, Mark J. Daly
doi: https://doi.org/10.1101/052886
Jack A. Kosmicki
1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
2Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA 02142, USA
3Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
4Program in Bioinformatics and Integrative Genomics, Harvard University, Cambridge, MA 02138, USA
5Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02446, USA
Kaitlin E. Samocha
1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
2Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA 02142, USA
3Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
5Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02446, USA
Daniel P. Howrigan
1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
2Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA 02142, USA
3Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
Stephan J. Sanders
6Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158, USA
Kamil Slowikowski
2Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA 02142, USA
4Program in Bioinformatics and Integrative Genomics, Harvard University, Cambridge, MA 02138, USA
7Divisions of Genetics and Rheumatology, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA 02446, USA
8Partners Center for Personalized Genetic Medicine, Boston, MA 02446, USA
Monkol Lek
1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
2Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA 02142, USA
Konrad J. Karczewski
1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
2Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA 02142, USA
David J. Cutler
9Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Bernie Devlin
10Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA
Kathryn Roeder
11Department of Statistics, Carnegie Mellon University, Pittsburgh, PA 15213, USA
Joseph D. Buxbaum
12Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
13Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
14Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
15Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
16Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
17Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
Benjamin M. Neale
1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
2Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA 02142, USA
3Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
Daniel G. MacArthur
1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
2Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA 02142, USA
Dennis P. Wall
18Departments of Pediatrics (Systems Medicine), Biomedical Data Science, and Psychiatry (by courtesy), Stanford University, CA, 94305, USA
Elise B. Robinson
1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
2Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA 02142, USA
3Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
Mark J. Daly
1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
2Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center, Cambridge, MA 02142, USA
3Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
Posted February 08, 2017.
Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples
Jack A. Kosmicki, Kaitlin E. Samocha, Daniel P. Howrigan, Stephan J. Sanders, Kamil Slowikowski, Monkol Lek, Konrad J. Karczewski, David J. Cutler, Bernie Devlin, Kathryn Roeder, Joseph D. Buxbaum, Benjamin M. Neale, Daniel G. MacArthur, Dennis P. Wall, Elise B. Robinson, Mark J. Daly
bioRxiv 052886; doi: https://doi.org/10.1101/052886
Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples
Jack A. Kosmicki, Kaitlin E. Samocha, Daniel P. Howrigan, Stephan J. Sanders, Kamil Slowikowski, Monkol Lek, Konrad J. Karczewski, David J. Cutler, Bernie Devlin, Kathryn Roeder, Joseph D. Buxbaum, Benjamin M. Neale, Daniel G. MacArthur, Dennis P. Wall, Elise B. Robinson, Mark J. Daly
bioRxiv 052886; doi: https://doi.org/10.1101/052886
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