The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders.

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TitleThe autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders.
Publication TypeJournal Article
Year of Publication2012
AuthorsBuxbaum, JD, Daly, MJ, Devlin, B, Lehner, T, Roeder, K, State, MW
Corporate AuthorsAutism Sequencing Consortium
JournalNeuron
Volume76
Issue6
Pagination1052-6
Date Published2012 Dec 20
ISSN1097-4199
KeywordsChild, Child Development Disorders, Pervasive, Child, Preschool, Consensus Sequence, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Humans
Abstract

Research during the past decade has seen significant progress in the understanding of the genetic architecture of autism spectrum disorders (ASDs), with gene discovery accelerating as the characterization of genomic variation has become increasingly comprehensive. At the same time, this research has highlighted ongoing challenges. Here we address the enormous impact of high-throughput sequencing (HTS) on ASD gene discovery, outline a consensus view for leveraging this technology, and describe a large multisite collaboration developed to accomplish these goals. Similar approaches could prove effective for severe neurodevelopmental disorders more broadly.

DOI10.1016/j.neuron.2012.12.008
Alternate JournalNeuron
PubMed ID23259942
PubMed Central IDPMC3863639
Grant ListR01 MH100239 / MH / NIMH NIH HHS / United States
U54 HG003067 / HG / NHGRI NIH HHS / United States
U01 MH100229 / MH / NIMH NIH HHS / United States
R01 MH100027 / MH / NIMH NIH HHS / United States
R01 MH094400 / MH / NIMH NIH HHS / United States
RC2 MH089956 / MH / NIMH NIH HHS / United States
R01 MH095797 / MH / NIMH NIH HHS / United States
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