Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

Whole-genome sequencing (WGS) has facilitated the first genome-wide evaluations of the contribution of de novo noncoding mutations to complex disorders. Using WGS, we assess genetic variation from 7,608 samples in 1,902 autism spectrum disorder (ASD) families, identifying 255,106 de novo mutations....

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Publicat a:Science
Autors principals: An, Joon-Yong, Lin, Kevin, Zhu, Lingxue, Werling, Donna M., Dong, Shan, Brand, Harrison, Wang, Harold Z., Zhao, Xuefang, Schwartz, Grace B., Collins, Ryan L., Currall, Benjamin B., Dastmalchi, Claudia, Dea, Jeanselle, Duhn, Clif, Gilson, Michael C., Klei, Lambertus, Liang, Lindsay, Markenscoff-Papadimitriou, Eirene, Pochareddy, Sirisha, Ahituv, Nadav, Buxbaum, Joseph D., Coon, Hilary, Daly, Mark J., Kim, Young Shin, Marth, Gabor T., Neale, Benjamin M., Quinlan, Aaron R., Rubenstein, John L., Sestan, Nenad, State, Matthew W., Willsey, A. Jeremy, Talkowski, Michael E., Devlin, Bernie, Roeder, Kathryn, Sanders, Stephan J.
Format: Artigo
Idioma:Inglês
Publicat: 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6432922/
https://ncbi.nlm.nih.gov/pubmed/30545852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.aat6576
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