James Sutcliffe
Last active: 2/20/2014

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

Buxbaum JD, Daly MJ, Devlin B, Lehner T, Roeder K, State MW, Autism Sequencing Consortium
Neuron. 2012 76 (6): 1052-6

PMID: 23259942 · PMCID: PMC3863639 · DOI:10.1016/j.neuron.2012.12.008

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.

MeSH Terms (7)

Child Child, Preschool Child Development Disorders, Pervasive Consensus Sequence Genetic Association Studies High-Throughput Nucleotide Sequencing Humans

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