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Published, Version of Record (VoR)CC BY V4.0, Open
Journal article
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Nature neuroscience, v 20(4), pp 602-611
01 Apr 2017
PMID: 28263302
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
We are performing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic factors involved. Here we report sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal. We found an average of 73.8 de novo single nucleotide variants and 12.6 de novo insertions and deletions or copy number variations per ASD subject. We identified 18 new candidate ASD-risk genes and found that participants bearing mutations in susceptibility genes had significantly lower adaptive ability (P = 6 × 10
). In 294 of 2,620 (11.2%) of ASD cases, a molecular basis could be determined and 7.2% of these carried copy number variations and/or chromosomal abnormalities, emphasizing the importance of detecting all forms of genetic variation as diagnostic and therapeutic targets in ASD.
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Details
- Title
- Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
- Creators
- Ryan K C Yuen - Hospital for Sick ChildrenDaniele Merico - Hospital for Sick ChildrenMatt Bookman - Google (United States)Jennifer L Howe - Hospital for Sick ChildrenBhooma Thiruvahindrapuram - Hospital for Sick ChildrenRohan V Patel - The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, CanadaJoe Whitney - Hospital for Sick ChildrenNicole Deflaux - Google (United States)Jonathan Bingham - Google (United States)Zhuozhi Wang - Hospital for Sick ChildrenGiovanna Pellecchia - Hospital for Sick ChildrenJanet A Buchanan - Hospital for Sick ChildrenSusan Walker - Hospital for Sick ChildrenChristian R Marshall - University of TorontoMohammed Uddin - Hospital for Sick ChildrenMehdi Zarrei - Hospital for Sick ChildrenEric Deneault - Hospital for Sick ChildrenLia D'Abate - University of TorontoAda J S Chan - Hospital for Sick ChildrenTara Paton - Hospital for Sick ChildrenStephanie Koyanagi - Hospital for Sick ChildrenSergio L Pereira - Hospital for Sick ChildrenNy Hoang - Hospital for Sick ChildrenWorrawat Engchuan - Hospital for Sick ChildrenEdward J Higginbotham - Hospital for Sick ChildrenKaren Ho - Hospital for Sick ChildrenSylvia Lamoureux - Hospital for Sick ChildrenWeili Li - Hospital for Sick ChildrenJeffrey R MacDonald - Hospital for Sick ChildrenThomas Nalpathamkalam - Hospital for Sick ChildrenWilson W L Sung - Hospital for Sick ChildrenFiona J Tsoi - Hospital for Sick ChildrenJohn Wei - Hospital for Sick ChildrenLizhen Xu - Hospital for Sick ChildrenAnne-Marie Tasse - McGill UniversityEmily Kirby - McGill UniversityWilliam Van Etten - BioTeam Inc., Middleton, Massachusetts, USASimon Twigger - BioTeam Inc., Middleton, Massachusetts, USAWendy Roberts - Hospital for Sick ChildrenIrene Drmic - Hospital for Sick ChildrenSanne Jilderda - Hospital for Sick ChildrenBonnie MacKinnon Modi - Hospital for Sick ChildrenBarbara Kellam - Hospital for Sick ChildrenMichael Szego - Hospital for Sick ChildrenCheryl Cytrynbaum - University of TorontoRosanna Weksberg - University of TorontoLonnie Zwaigenbaum - Department of Pediatrics, University of Alberta, Edmonton, CanadaMarc Woodbury-Smith - McMaster UniversityJessica Brian - Holland Bloorview Kids Rehabilitation HospitalLili Senman - Holland Bloorview Kids Rehabilitation HospitalAlana Iaboni - Holland Bloorview Kids Rehabilitation HospitalKrissy Doyle-Thomas - University of TorontoAnn Thompson - McMaster UniversityChristina Chrysler - McMaster UniversityJonathan Leef - Holland Bloorview Kids Rehabilitation HospitalTal Savion-Lemieux - McGill UniversityIsabel M Smith - Dalhousie UniversityXudong Liu - Queen's UniversityRob Nicolson - Children’s Health Research InstituteVicki Seifer - Autism SpeaksAngie Fedele - Autism SpeaksEdwin H Cook - University of Illinois ChicagoStephen Dager - Department of Radiology, University of Washington, Seattle, Washington, USAAnnette Estes - University of WashingtonLouise Gallagher - Trinity College DublinBeth A Malow - Vanderbilt UniversityJeremy R Parr - Institute of Neuroscience, Newcastle University, Newcastle Upon Tyne, UKSarah J Spence - Boston Children's HospitalJacob Vorstman - University Medical Center UtrechtBrendan J Frey - University of TorontoJames T Robinson - Department of Medicine, University of California San Diego, La Jolla, California, USALisa J Strug - Public Health OntarioBridget A Fernandez - Memorial University of NewfoundlandMayada Elsabbagh - McGill UniversityMelissa T Carter - Hospital for Sick ChildrenJoachim Hallmayer - Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USABartha M Knoppers - McGill UniversityEvdokia Anagnostou - Holland Bloorview Kids Rehabilitation HospitalPeter Szatmari - Centre for Addiction and Mental HealthRobert H Ring - Drexel University, Pharmacology and PhysiologyDavid Glazer - Verily Life Sciences, South San Francisco, California, USAMathew T Pletcher - Autism SpeaksStephen W Scherer - University of Toronto
- Publication Details
- Nature neuroscience, v 20(4), pp 602-611
- Publisher
- Springer Nature
- Grant note
- 143295-1 / CIHR U54 HD083211 / NICHD NIH HHS 129338-1 / CIHR U24 CA210004 / NCI NIH HHS 140849-1 / CIHR 125818-1 / CIHR
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pharmacology and Physiology
- Web of Science ID
- WOS:000397558800015
- Scopus ID
- 2-s2.0-85014531804
- Other Identifier
- 991021864307204721
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- Collaboration types
- Industry collaboration
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Neurosciences