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

The Autism Sequencing Consortium

doi:10.1016/j.neuron.2012.12.008

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

The Autism Sequencing Consortium

Kennedy Krieger Institute

Research output: Contribution to journal › Short survey › peer-review

110 Scopus citations

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.

Original language	English (US)
Pages (from-to)	1052-1056
Number of pages	5
Journal	Neuron
Volume	76
Issue number	6
DOIs	https://doi.org/10.1016/j.neuron.2012.12.008
State	Published - Dec 20 2012

ASJC Scopus subject areas

General Neuroscience

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10.1016/j.neuron.2012.12.008

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@article{7dfc1846e6ca47edb0aa8d3db7ab7cde,

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

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.",

author = "{The Autism Sequencing Consortium} and Buxbaum, {Joseph D.} and Daly, {Mark J.} and Bernie Devlin and Thomas Lehner and Kathryn Roeder and State, {Matthew W.} and Jeffrey Bilder and Deborah Barrett and Eric Boerwinkle and Michael Brudno and Peter Burbach and Nicola Camp and Jr Cook and Hilary Coon and Giovanni Coppola and Menachem Fromer and David Cutler and Mark dePristo and Eichler, {Evan E.} and Geschwind, {Daniel H.} and Gibbs, {Richard A.} and Michael Gill and Goldberg, {Arthur P.} and Haines, {Jonathan L.} and Hakon Hakonarson and Iuliana Ionita-Laza and Koeleman, {Bobby P.C.} and Alexander Kolevzon and Niklas Krumm and {Lese Martin}, Christa and Lowe, {Jennifer K.} and Derek Morris and Benjamin Neale and O'Roak, {Brian J.} and Aarno Palotie and Pericak-Vance, {Margaret A.} and Dalila Pinto and Poultney, {Christopher S.} and Purcell, {Shaun M.} and Aniko Sabo and Stephan Sanders and Schadt, {Eric E.} and Chad Schafer and Schellenberg, {Gerard D.} and Stephen Scherer and Jay Shendure and Pamela Sklar and Sutcliffe, {James S.} and Peter Szatmari and Elaine Tierney",

note = "Funding Information: The authors thank the National Institute of Mental Health (NIMH), the National Human Genome Research Institute (NHGRI), and the Seaver Foundation for supporting the ASC meetings and calls and for facilitating and encouraging broad participation. The authors also thank Jessica Brownfeld for help with organization and manuscript preparation. ",

year = "2012",

month = dec,

day = "20",

doi = "10.1016/j.neuron.2012.12.008",

language = "English (US)",

volume = "76",

pages = "1052--1056",

journal = "Neuron",

issn = "0896-6273",

publisher = "Cell Press",

number = "6",

}

TY - JOUR

T1 - The Autism Sequencing Consortium

T2 - Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders

AU - The Autism Sequencing Consortium

AU - Buxbaum, Joseph D.

AU - Daly, Mark J.

AU - Devlin, Bernie

AU - Lehner, Thomas

AU - Roeder, Kathryn

AU - State, Matthew W.

AU - Bilder, Jeffrey

AU - Barrett, Deborah

AU - Boerwinkle, Eric

AU - Brudno, Michael

AU - Burbach, Peter

AU - Camp, Nicola

AU - Cook, Jr

AU - Coon, Hilary

AU - Coppola, Giovanni

AU - Fromer, Menachem

AU - Cutler, David

AU - dePristo, Mark

AU - Eichler, Evan E.

AU - Geschwind, Daniel H.

AU - Gibbs, Richard A.

AU - Gill, Michael

AU - Goldberg, Arthur P.

AU - Haines, Jonathan L.

AU - Hakonarson, Hakon

AU - Ionita-Laza, Iuliana

AU - Koeleman, Bobby P.C.

AU - Kolevzon, Alexander

AU - Krumm, Niklas

AU - Lese Martin, Christa

AU - Lowe, Jennifer K.

AU - Morris, Derek

AU - Neale, Benjamin

AU - O'Roak, Brian J.

AU - Palotie, Aarno

AU - Pericak-Vance, Margaret A.

AU - Pinto, Dalila

AU - Poultney, Christopher S.

AU - Purcell, Shaun M.

AU - Sabo, Aniko

AU - Sanders, Stephan

AU - Schadt, Eric E.

AU - Schafer, Chad

AU - Schellenberg, Gerard D.

AU - Scherer, Stephen

AU - Shendure, Jay

AU - Sklar, Pamela

AU - Sutcliffe, James S.

AU - Szatmari, Peter

AU - Tierney, Elaine

N1 - Funding Information: The authors thank the National Institute of Mental Health (NIMH), the National Human Genome Research Institute (NHGRI), and the Seaver Foundation for supporting the ASC meetings and calls and for facilitating and encouraging broad participation. The authors also thank Jessica Brownfeld for help with organization and manuscript preparation.

PY - 2012/12/20

Y1 - 2012/12/20

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84871371945&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84871371945&partnerID=8YFLogxK

U2 - 10.1016/j.neuron.2012.12.008

DO - 10.1016/j.neuron.2012.12.008

M3 - Short survey

C2 - 23259942

AN - SCOPUS:84871371945

SN - 0896-6273

VL - 76

SP - 1052

EP - 1056

JO - Neuron

JF - Neuron

IS - 6

ER -

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

Abstract

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