Article
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
Neuron - 23 Jan 2013
Lim Elaine T, Raychaudhuri Soumya, Sanders Stephan J, Stevens Christine, Sabo Aniko, MacArthur Daniel G, Neale Benjamin M, Kirby Andrew, Ruderfer Douglas M, Fromer Menachem, Lek Monkol, Liu Li, Flannick Jason, Ripke Stephan, Nagaswamy Uma, Muzny Donna, Reid Jeffrey G, Hawes Alicia, Newsham Irene, Wu Yuanqing, Lewis Lora, Dinh Huyen, Gross Shannon, Wang Li-San, Lin Chiao-Feng, Valladares Otto, Gabriel Stacey B, dePristo Mark, Altshuler David M, Purcell Shaun M, State Matthew W, Boerwinkle Eric, Buxbaum Joseph D, Cook Edwin H, Gibbs Richard A, Schellenberg Gerard D, Sutcliffe James S, Devlin Bernie, Roeder Kathryn, Daly Mark J
Abstract excerpt
To characterize the role of rare complete human knockouts in autism spectrum disorders (ASDs), we identify genes with homozygous or compound heterozygous loss-of-function (LoF) variants (defined as nonsense and essential splice sites) from exome sequencing of 933 cases and 869 controls. We identify a 2-fold increase in complete knockouts of autosomal genes with low rates of LoF variation (≤ 5% frequency) in cases...
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