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
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 -