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Neuron. 2012 Dec 20;76(6):1052-6. doi: 10.1016/j.neuron.2012.12.008.

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

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  • 1Seaver Autism Center, Departments of Psychiatry, Neuroscience, and Genetics and Genomic Sciences, and the Friedman Brain Institute, Mount Sinai School of Medicine, New York, NY 10029, USA. joseph.buxbaum@mssm.edu


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.

Copyright © 2012 Elsevier Inc. All rights reserved.

[PubMed - indexed for MEDLINE]
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