A framework for an evidence-based gene list relevant to autism spectrum disorder

Autor: Peter Szatmari, Mayada Elsabbagh, Wendy K. Chung, Helen V. Firth, Ny Hoang, Jacques L. Michaud, Catalina Betancur, Janet A. Buchanan, Jennifer L. Howe, Jacob A. S. Vorstman, Louise Gallagher, Christian P. Schaaf, Edwin H. Cook, Joseph D. Buxbaum, Kira A. Dies, Olivia Rennie, Stephen W. Scherer, Raphael Bernier, Jeremy R. Parr, Ryan K. C. Yuen, Patrick Bolton, Thomas W. Frazier, Christian R. Marshall, Chun-An Chen, David Skuse
Přispěvatelé: Betancur, Catalina, Institute of Human Genetics [Heidelberg, Germany], Universität Heidelberg [Heidelberg], Baylor College of Medicine (BCM), Baylor University, Texas Children's Hospital [Houston, USA], Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), The Hospital for sick children [Toronto] (SickKids), University of Toronto, Newcastle University [Newcastle], University College of London [London] (UCL), Trinity College Dublin, University of Washington [Seattle], Children's Autism Center [Seattle, WA, USA], Icahn School of Medicine at Mount Sinai [New York] (MSSM), Department of Neurology, Children's Hospital [Boston], Boston Children's Hospital, Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada], Cambridge University Hospitals - NHS (CUH), University of Cambridge [UK] (CAM), The Wellcome Trust Sanger Institute [Cambridge], Autism Speaks [Cleveland, OH, USA], Centre de recherche du CHU Sainte-Justine / Research Center of the Sainte-Justine University Hospital [Montreal, Canada], Université de Montréal (UdeM)-CHU Sainte Justine [Montréal], Centre for Addiction and Mental Health [Toronto] (CAMH), Columbia University Medical Center (CUMC), Columbia University [New York], Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, University of Illinois [Chicago] (UIC), University of Illinois System, McLaughlin Centre for Population Health Risk Assessment, University of Ottawa [Ottawa], Génétique de l'autisme = Genetics of Autism (NPS-01), Neurosciences Paris Seine (NPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche du CHU Sainte-Justine [Montreal], CHU Sainte Justine [Montréal]-Université de Montréal (UdeM)
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Nature Reviews Genetics
Nature Reviews Genetics, 2020, 21 (6), pp.367-376. ⟨10.1038/s41576-020-0231-2⟩
Nature Reviews Genetics, Nature Publishing Group, 2020, 21 (6), pp.367-376. ⟨10.1038/s41576-020-0231-2⟩
ISSN: 1471-0056
1471-0064
Popis: International audience; Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers need to decide which genes to test in individuals with ASD phenotypes, which requires an understanding of the level of evidence for individual NDD genes that supports an association with ASD. Consensus is currently lacking about which NDD genes have sufficient evidence to support a relationship to ASD. Estimates of the number of genes relevant to ASD differ greatly among research groups and clinical sequencing panels, varying from a few to several hundred. This Roadmap discusses important considerations necessary to provide an evidence-based framework for the curation of NDD genes based on the level of information supporting a clinically relevant relationship between a given gene and ASD.
Databáze: OpenAIRE
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