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., Bilder J., Barrett D., Boerwinkle E., Brudno M., Burbach P., Camp N., Cook J., Coon H., Coppola G., Fromer M., Cutler D., dePristo M., Eichler EE., Geschwind DH., Gibbs RA., Gill M., Goldberg AP., Haines JL., Hakonarson H., Ionita-Laza I., Koeleman BPC., Kolevzon A., Krumm N., Lese Martin C., Lowe JK., Morris D., Neale B., O'Roak BJ., Palotie A., Pericak-Vance MA., Pinto D., Poultney CS., Purcell SM., Sabo A., Sanders S., Schadt EE., Schafer C., Schellenberg GD., Scherer S., Shendure J., Sklar P., Sutcliffe JS., Szatmari P., Tierney E., Vorstman JAS., Walker S., Wang LS., Warren ST., Wei L., Wigler M., Yuen R., Zwick ME.
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. © 2012 Elsevier Inc.