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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

Authors :
Xueya, Zhou
Pamela, Feliciano
Chang, Shu
Tianyun, Wang
Irina, Astrovskaya
Jacob B, Hall
Joseph U, Obiajulu
Jessica R, Wright
Shwetha C, Murali
Simon Xuming, Xu
Leo, Brueggeman
Taylor R, Thomas
Olena, Marchenko
Christopher, Fleisch
Sarah D, Barns
LeeAnne Green, Snyder
Bing, Han
Timothy S, Chang
Tychele N, Turner
William T, Harvey
Andrew, Nishida
Brian J, O'Roak
Daniel H, Geschwind
Jacob J, Michaelson
Natalia, Volfovsky
Evan E, Eichler
Yufeng, Shen
Zachary E, Warren
Source :
Nature genetics. 54(9)
Publication Year :
2021

Abstract

To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new cases recruited online by SPARK. We identified 60 genes with exome-wide significance (P 2.5 × 10

Details

ISSN :
15461718
Volume :
54
Issue :
9
Database :
OpenAIRE
Journal :
Nature genetics
Accession number :
edsair.pmid..........1081389b34b084f366c6d2fb73e39744