Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

Recent research has uncovered a significant role for de novo variation in neurodevelopmental disorders. Using aggregated data from 9246 families with autism spectrum disorder, intellectual disability, or developmental delay, we show ~1/3 of de novo variants are independently observed as standing var...

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Detalles Bibliográficos
Autores principales: Kosmicki, Jack A., Samocha, Kaitlin E., Howrigan, Daniel P., Sanders, Stephan J., Slowikowski, Kamil, Lek, Monkol, Karczewski, Konrad J., Cutler, David J., Devlin, Bernie, Roeder, Kathryn, Buxbaum, Joseph D., Neale, Benjamin M., MacArthur, Daniel G., Wall, Dennis P., Robinson, Elise B., Daly, Mark J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496244/
https://www.ncbi.nlm.nih.gov/pubmed/28191890
http://dx.doi.org/10.1038/ng.3789

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496244/
https://www.ncbi.nlm.nih.gov/pubmed/28191890
http://dx.doi.org/10.1038/ng.3789

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