Article
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
Science (New York, N.Y.) - 21 Dec 2012
O'Roak Brian J, Vives Laura, Fu Wenqing, Egertson Jarrett D, Stanaway Ian B, Phelps Ian G, Carvill Gemma, Kumar Akash, Lee Choli, Ankenman Katy, Munson Jeff, Hiatt Joseph B, Turner Emily H, Levy Roie, O'Day Diana R, Krumm Niklas, Coe Bradley P, Martin Beth K, Borenstein Elhanan, Nickerson Deborah A, Mefford Heather C, Doherty Dan, Akey Joshua M, Bernier Raphael, Eichler Evan E, Shendure Jay
Abstract excerpt
Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de novo mutations but few recurrently disrupted genes. We therefore developed a modified molecular inversion probe method enabling ultra-low-cost candidate gene resequencing in very large cohorts. To demonstrate the power of this approach, we captured and sequenced 44 candidate genes in 2446 ASD probands. We discovered 27 de novo...
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