Article
A framework for the interpretation of de novo mutation in human disease.
Nature genetics - 1 Sept 2014
Samocha Kaitlin E, Robinson Elise B, Sanders Stephan J, Stevens Christine, Sabo Aniko, McGrath Lauren M, Kosmicki Jack A, Rehnström Karola, Mallick Swapan, Kirby Andrew, Wall Dennis P, MacArthur Daniel G, Gabriel Stacey B, DePristo Mark, Purcell Shaun M, Palotie Aarno, Boerwinkle Eric, Buxbaum Joseph D, Cook Edwin H, Gibbs Richard A, Schellenberg Gerard D, Sutcliffe James S, Devlin Bernie, Roeder Kathryn, Neale Benjamin M, Daly Mark J
Abstract excerpt
Spontaneously arising (de novo) mutations have an important role in medical genetics. For diseases with extensive locus heterogeneity, such as autism spectrum disorders (ASDs), the signal from de novo mutations is distributed across many genes, making it difficult to distinguish disease-relevant mutations from background variation. Here we provide a statistical framework for the analysis of excesses in de novo...
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