The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders

被引：122

作者：

Buxbaum, Joseph D. ^{[1
,2
,3
,4
]}

Daly, Mark J. ^{[5
,6
]}

Devlin, Bernie ^{[7
]}

Lehner, Thomas ^{[8
]}

Roeder, Kathryn ^{[9
,10
]}

State, Matthew W. ^{[11
,12
]}

机构：

[1] Mt Sinai Sch Med, Seaver Autism Ctr, Dept Psychiat, New York, NY 10029 USA

[2] Mt Sinai Sch Med, Seaver Autism Ctr, Dept Neurosci, New York, NY 10029 USA

[3] Mt Sinai Sch Med, Seaver Autism Ctr, Dept Genet & Genom Sci, New York, NY 10029 USA

[4] Mt Sinai Sch Med, Friedman Brain Inst, New York, NY 10029 USA

[5] Harvard Univ, Sch Med, Broad Inst, Boston, MA 02114 USA

[6] Harvard Univ, Sch Med, Translat Genet Unit, Boston, MA 02114 USA

[7] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA 15213 USA

[8] NIMH, NIH, Bethesda, MD 20892 USA

[9] Carnegie Mellon Univ, Dept Stat, Pittsburgh, PA 15213 USA

[10] Carnegie Mellon Univ, Lane Ctr Computat Biol, Pittsburgh, PA 15213 USA

[11] Yale Univ, Dept Psychiat, New Haven, CT 06520 USA

[12] Yale Univ, Program Neurogenet, Ctr Child Study, New Haven, CT 06520 USA

来源：

NEURON | 2012年 / 76卷 / 06期

关键词：

DE-NOVO MUTATIONS; COPY NUMBER VARIATION;

D O I：

10.1016/j.neuron.2012.12.008

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页码：1052 / 1056

页数：5

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