A framework for the interpretation of de novo mutation in human disease

A framework for the interpretation of de novo mutation in human disease

Spontaneously arising (‘de novo’) mutations play an important role in medical genetics. For diseases with extensive locus heterogeneity – such as autism spectrum disorders (ASDs) – the signal from de novo mutations (DNMs) is distributed across many genes, making it difficult to distinguish disease-r...

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Bibliographic Details
Main Authors: 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.
Format: Online
Language:English
Published: 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222185/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222185/

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