Title: Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families
Authors: last_name: Werling
first_name: Donna M.
name: Donna M. Werling
affiliations: label: 1
institution: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California
name: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
notes: These authors contributed equally to this work.
last_name: Brand
first_name: Harrison
name: Harrison Brand
affiliations: label: 2
institution: Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital
name: Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital , Boston, MA.
label: 3
institution: Department of Neurology, Harvard Medical School
name: Department of Neurology, Harvard Medical School , Boston, MA.
label: 4
institution: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute
name: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute , Cambridge, MA.
notes: These authors contributed equally to this work.
last_name: An
first_name: Joon-Yong
name: Joon-Yong An
affiliations: label: 1
institution: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California
name: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
notes: These authors contributed equally to this work.
last_name: Stone
first_name: Matthew R.
name: Matthew R. Stone
affiliations: label: 2
institution: Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital
name: Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital , Boston, MA.
notes: These authors contributed equally to this work.
last_name: Glessner
first_name: Joseph T.
name: Joseph T. Glessner
affiliations: label: 2
institution: Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital
name: Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital , Boston, MA.
label: 3
institution: Department of Neurology, Harvard Medical School
name: Department of Neurology, Harvard Medical School , Boston, MA.
label: 4
institution: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute
name: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute , Cambridge, MA.
notes: These authors contributed equally to this work.
last_name: Zhu
first_name: Lingxue
name: Lingxue Zhu
affiliations: label: 5
institution: Department of Statistics, Carnegie Mellon University
country: USA
name: Department of Statistics, Carnegie Mellon University , Pittsburgh, PA 15213, USA .
last_name: Collins
first_name: Ryan L.
name: Ryan L. Collins
affiliations: label: 2
institution: Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital
name: Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital , Boston, MA.
label: 3
institution: Department of Neurology, Harvard Medical School
name: Department of Neurology, Harvard Medical School , Boston, MA.
label: 6
institution: Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School
name: Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School , Boston, MA.
last_name: Dong
first_name: Shan
name: Shan Dong
affiliations: label: 1
institution: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California
name: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
last_name: Layer
first_name: Ryan M.
name: Ryan M. Layer
affiliations: label: 7
institution: Department of Human Genetics, University of Utah School of Medicine
name: Department of Human Genetics, University of Utah School of Medicine , Salt Lake City, Utah.
label: 8
institution: USTAR Center for Genetic Discovery, University of Utah School of Medicine
name: USTAR Center for Genetic Discovery, University of Utah School of Medicine , Salt Lake City, UT.
last_name: Markenscoff-Papadimitriou
first_name: Eirene
name: Eirene Markenscoff-Papadimitriou
affiliations: label: 1
institution: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California
name: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
last_name: Farrell
first_name: Andrew
name: Andrew Farrell
affiliations: label: 7
institution: Department of Human Genetics, University of Utah School of Medicine
name: Department of Human Genetics, University of Utah School of Medicine , Salt Lake City, Utah.
label: 8
institution: USTAR Center for Genetic Discovery, University of Utah School of Medicine
name: USTAR Center for Genetic Discovery, University of Utah School of Medicine , Salt Lake City, UT.
last_name: Schwartz
first_name: Grace B.
name: Grace B. Schwartz
affiliations: label: 1
institution: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California
name: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
last_name: Currall
first_name: Benjamin B.
name: Benjamin B. Currall
affiliations: label: 2
institution: Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital
name: Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital , Boston, MA.
label: 3
institution: Department of Neurology, Harvard Medical School
name: Department of Neurology, Harvard Medical School , Boston, MA.
label: 4
institution: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute
name: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute , Cambridge, MA.
last_name: Dea
first_name: Jeanselle
name: Jeanselle Dea
affiliations: label: 1
institution: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California
name: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
last_name: Duhn
first_name: Clif
name: Clif Duhn
affiliations: label: 1
institution: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California
name: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
last_name: Erdman
first_name: Carolyn
name: Carolyn Erdman
affiliations: label: 1
institution: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California
name: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
last_name: Gilson
first_name: Michael
name: Michael Gilson
affiliations: label: 1
institution: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California
name: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
last_name: Handsaker
first_name: Robert E.
name: Robert E. Handsaker
affiliations: label: 4
institution: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute
name: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute , Cambridge, MA.
last_name: Kashin
first_name: Seva
name: Seva Kashin
affiliations: label: 4
institution: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute
name: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute , Cambridge, MA.
last_name: Klei
first_name: Lambertus
name: Lambertus Klei
affiliations: label: 9
institution: Department of Psychiatry, University of Pittsburgh School of Medicine
country: USA
name: Department of Psychiatry, University of Pittsburgh School of Medicine , Pittsburgh, PA 15213, USA .
last_name: Mandell
first_name: Jeffrey D.
name: Jeffrey D. Mandell
affiliations: label: 1
institution: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California
name: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
last_name: Nowakowski
first_name: Tomasz J.
name: Tomasz J. Nowakowski
affiliations: label: 10
institution: Department of Neuroscience, UCSF Weill Institute for Neurosciences, University of California
name: 10 Department of Neuroscience, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
last_name: Liu
first_name: Yuwen
name: Yuwen Liu
affiliations: label: 11
institution: Department of Human Genetics, University of Chicago
name: 11 Department of Human Genetics, University of Chicago , Chicago, IL.
last_name: Pochareddy
first_name: Sirisha
name: Sirisha Pochareddy
affiliations: label: 12
institution: Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine
country: USA
name: 12 Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine , New Haven, CT 06510, USA .
last_name: Smith
first_name: Louw
name: Louw Smith
affiliations: label: 1
institution: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California
name: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
last_name: Walker
first_name: Michael F.
name: Michael F. Walker
affiliations: label: 1
institution: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California
name: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
last_name: Wang
first_name: Harold Z.
name: Harold Z. Wang
affiliations: label: 2
institution: Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital
name: Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital , Boston, MA.
last_name: Waterman
first_name: Mathew J.
name: Mathew J. Waterman
affiliations: label: 13
institution: Department of Biology, Eastern Nazarene College
name: 13 Department of Biology, Eastern Nazarene College , Quincy, MA 02170.
last_name: He
first_name: Xin
name: Xin He
affiliations: label: 11
institution: Department of Human Genetics, University of Chicago
name: 11 Department of Human Genetics, University of Chicago , Chicago, IL.
last_name: Kriegstein
first_name: Arnold R.
name: Arnold R. Kriegstein
affiliations: label: 10
institution: Department of Neuroscience, UCSF Weill Institute for Neurosciences, University of California
name: 10 Department of Neuroscience, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
last_name: Rubenstein
first_name: John L.
name: John L. Rubenstein
affiliations: label: 1
institution: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California
name: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
last_name: Sestan
first_name: Nenad
name: Nenad Sestan
affiliations: label: 12
institution: Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine
country: USA
name: 12 Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine , New Haven, CT 06510, USA .
last_name: McCarroll
first_name: Steven A.
name: Steven A. McCarroll
affiliations: label: 4
institution: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute
name: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute , Cambridge, MA.
last_name: Neale
first_name: Ben M.
name: Ben M. Neale
affiliations: label: 4
institution: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute
name: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute , Cambridge, MA.
label: 14
institution: Analytical and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital
name: 14 Analytical and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA.
label: 15
institution: Department of Medicine, Harvard Medical School
name: 15 Department of Medicine, Harvard Medical School , Boston, MA.
last_name: Coon
first_name: Hilary
name: Hilary Coon
affiliations: label: 16
institution: Department of Psychiatry, University of Utah School of Medicine
name: 16 Department of Psychiatry, University of Utah School of Medicine , Salt Lake City, UT.
label: 17
institution: Department of Biomedical Informatics, University of Utah School of Medicine
name: 17 Department of Biomedical Informatics, University of Utah School of Medicine , Salt Lake City,UT.
last_name: Willsey
first_name: A. Jeremy
name: A. Jeremy Willsey
affiliations: label: 1
institution: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California
name: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
label: 18
institution: Institute of Neurodegeneration, University of California
name: 18 Institute of Neurodegeneration, University of California , San Francisco, San Francisco, CA.
last_name: Buxbaum
first_name: Joseph D.
name: Joseph D. Buxbaum
affiliations: label: 19
institution: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
country: USA
name: 19 Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai , New York, NY 10029, USA .
label: 20
institution: Department of Psychiatry, Icahn School of Medicine at Mount Sinai
country: USA
name: 20 Department of Psychiatry, Icahn School of Medicine at Mount Sinai , New York, NY 10029, USA .
label: 21
institution: Friedman Brain Institute, Icahn School of Medicine at Mount Sinai
name: 21 Friedman Brain Institute, Icahn School of Medicine at Mount Sinai , New York, NY.
label: 22
institution: Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
name: 22 Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY.
last_name: Daly
first_name: Mark J.
name: Mark J. Daly
affiliations: label: 4
institution: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute
name: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute , Cambridge, MA.
label: 14
institution: Analytical and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital
name: 14 Analytical and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA.
label: 15
institution: Department of Medicine, Harvard Medical School
name: 15 Department of Medicine, Harvard Medical School , Boston, MA.
last_name: State
first_name: Matthew W.
name: Matthew W. State
affiliations: label: 1
institution: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California
name: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
last_name: Quinlan
first_name: Aaron
name: Aaron Quinlan
affiliations: label: 7
institution: Department of Human Genetics, University of Utah School of Medicine
name: Department of Human Genetics, University of Utah School of Medicine , Salt Lake City, Utah.
label: 8
institution: USTAR Center for Genetic Discovery, University of Utah School of Medicine
name: USTAR Center for Genetic Discovery, University of Utah School of Medicine , Salt Lake City, UT.
label: 17
institution: Department of Biomedical Informatics, University of Utah School of Medicine
name: 17 Department of Biomedical Informatics, University of Utah School of Medicine , Salt Lake City,UT.
last_name: Marth
first_name: Gabor T.
name: Gabor T. Marth
affiliations: label: 7
institution: Department of Human Genetics, University of Utah School of Medicine
name: Department of Human Genetics, University of Utah School of Medicine , Salt Lake City, Utah.
label: 8
institution: USTAR Center for Genetic Discovery, University of Utah School of Medicine
name: USTAR Center for Genetic Discovery, University of Utah School of Medicine , Salt Lake City, UT.
last_name: Roeder
first_name: Kathryn
name: Kathryn Roeder
affiliations: label: 23
institution: Departments of Statistics and Computational Biology, Carnegie Mellon University
country: USA
name: 23 Departments of Statistics and Computational Biology, Carnegie Mellon University , Pittsburgh, PA 15213, USA .
last_name: Devlin
first_name: Bernie
name: Bernie Devlin
corresponding: yes
affiliations: label: 9
institution: Department of Psychiatry, University of Pittsburgh School of Medicine
country: USA
name: Department of Psychiatry, University of Pittsburgh School of Medicine , Pittsburgh, PA 15213, USA .
last_name: Talkowski
first_name: Michael E.
name: Michael E. Talkowski
corresponding: yes
affiliations: label: 2
institution: Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital
name: Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital , Boston, MA.
label: 3
institution: Department of Neurology, Harvard Medical School
name: Department of Neurology, Harvard Medical School , Boston, MA.
label: 4
institution: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute
name: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute , Cambridge, MA.
label: 24
institution: Departments of Pathology and Psychiatry, Massachusetts General Hospital
name: 24 Departments of Pathology and Psychiatry, Massachusetts General Hospital , Boston, MA.
last_name: Sanders
first_name: Stephan J.
name: Stephan J. Sanders
corresponding: yes
affiliations: label: 1
institution: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California
name: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
Affiliations: label: 1
institution: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California
name: Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
label: 2
institution: Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital
name: Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital , Boston, MA.
label: 3
institution: Department of Neurology, Harvard Medical School
name: Department of Neurology, Harvard Medical School , Boston, MA.
label: 4
institution: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute
name: Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute , Cambridge, MA.
label: 5
institution: Department of Statistics, Carnegie Mellon University
country: USA
name: Department of Statistics, Carnegie Mellon University , Pittsburgh, PA 15213, USA .
label: 6
institution: Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School
name: Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School , Boston, MA.
label: 7
institution: Department of Human Genetics, University of Utah School of Medicine
name: Department of Human Genetics, University of Utah School of Medicine , Salt Lake City, Utah.
label: 8
institution: USTAR Center for Genetic Discovery, University of Utah School of Medicine
name: USTAR Center for Genetic Discovery, University of Utah School of Medicine , Salt Lake City, UT.
label: 9
institution: Department of Psychiatry, University of Pittsburgh School of Medicine
country: USA
name: Department of Psychiatry, University of Pittsburgh School of Medicine , Pittsburgh, PA 15213, USA .
label: 10
institution: Department of Neuroscience, UCSF Weill Institute for Neurosciences, University of California
name: 10 Department of Neuroscience, UCSF Weill Institute for Neurosciences, University of California , San Francisco, San Francisco, CA.
label: 11
institution: Department of Human Genetics, University of Chicago
name: 11 Department of Human Genetics, University of Chicago , Chicago, IL.
label: 12
institution: Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine
country: USA
name: 12 Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine , New Haven, CT 06510, USA .
label: 13
institution: Department of Biology, Eastern Nazarene College
name: 13 Department of Biology, Eastern Nazarene College , Quincy, MA 02170.
label: 14
institution: Analytical and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital
name: 14 Analytical and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA.
label: 15
institution: Department of Medicine, Harvard Medical School
name: 15 Department of Medicine, Harvard Medical School , Boston, MA.
label: 16
institution: Department of Psychiatry, University of Utah School of Medicine
name: 16 Department of Psychiatry, University of Utah School of Medicine , Salt Lake City, UT.
label: 17
institution: Department of Biomedical Informatics, University of Utah School of Medicine
name: 17 Department of Biomedical Informatics, University of Utah School of Medicine , Salt Lake City,UT.
label: 18
institution: Institute of Neurodegeneration, University of California
name: 18 Institute of Neurodegeneration, University of California , San Francisco, San Francisco, CA.
label: 19
institution: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
country: USA
name: 19 Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai , New York, NY 10029, USA .
label: 20
institution: Department of Psychiatry, Icahn School of Medicine at Mount Sinai
country: USA
name: 20 Department of Psychiatry, Icahn School of Medicine at Mount Sinai , New York, NY 10029, USA .
label: 21
institution: Friedman Brain Institute, Icahn School of Medicine at Mount Sinai
name: 21 Friedman Brain Institute, Icahn School of Medicine at Mount Sinai , New York, NY.
label: 22
institution: Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
name: 22 Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY.
label: 23
institution: Departments of Statistics and Computational Biology, Carnegie Mellon University
country: USA
name: 23 Departments of Statistics and Computational Biology, Carnegie Mellon University , Pittsburgh, PA 15213, USA .
label: 24
institution: Departments of Pathology and Psychiatry, Massachusetts General Hospital
name: 24 Departments of Pathology and Psychiatry, Massachusetts General Hospital , Boston, MA.
Field: Biochemistry, Genetics and Molecular Biology
Document type: preprint
Year: 2017