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....

詳細記述

保存先:
書誌詳細
出版年:Science
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: 2018
主題:
Article
オンライン･アクセス: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
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!

類似資料