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Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes
De novo mutations affect risk for many diseases and disorders, especially those with early-onset. An example is autism spectrum disorders (ASD). Four recent whole-exome sequencing (WES) studies of ASD families revealed a handful of novel risk genes, based on independent de novo loss-of-function (LoF...
Autores principales: | He, Xin, Sanders, Stephan J., Liu, Li, De Rubeis, Silvia, Lim, Elaine T., Sutcliffe, James S., Schellenberg, Gerard D., Gibbs, Richard A., Daly, Mark J., Buxbaum, Joseph D., State, Matthew W., Devlin, Bernie, Roeder, Kathryn |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3744441/ https://www.ncbi.nlm.nih.gov/pubmed/23966865 http://dx.doi.org/10.1371/journal.pgen.1003671 |
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