Ontology highlight
ABSTRACT:
SUBMITTER: Ganna A
PROVIDER: S-EPMC5127781 | biostudies-literature | 2016 Dec
REPOSITORIES: biostudies-literature
Ganna Andrea A Genovese Giulio G Howrigan Daniel P DP Byrnes Andrea A Kurki Mitja M Zekavat Seyedeh M SM Whelan Christopher W CW Kals Mart M Nivard Michel G MG Bloemendal Alex A Bloom Jonathan M JM Goldstein Jacqueline I JI Poterba Timothy T Seed Cotton C Handsaker Robert E RE Natarajan Pradeep P Mägi Reedik R Gage Diane D Robinson Elise B EB Metspalu Andres A Salomaa Veikko V Suvisaari Jaana J Purcell Shaun M SM Sklar Pamela P Kathiresan Sekar S Daly Mark J MJ McCarroll Steven A SA Sullivan Patrick F PF Palotie Aarno A Esko Tõnu T Hultman Christina C Neale Benjamin M BM
Nature neuroscience 20161003 12
Disruptive, damaging ultra-rare variants in highly constrained genes are enriched in individuals with neurodevelopmental disorders. In the general population, this class of variants was associated with a decrease in years of education (YOE). This effect was stronger among highly brain-expressed genes and explained more YOE variance than pathogenic copy number variation but less than common variants. Disruptive, damaging ultra-rare variants in highly constrained genes influence the determinants o ...[more]