Ontology highlight
ABSTRACT:
SUBMITTER: Doan RN
PROVIDER: S-EPMC6629034 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Doan Ryan N RN Lim Elaine T ET De Rubeis Silvia S Betancur Catalina C Cutler David J DJ Chiocchetti Andreas G AG Overman Lynne M LM Soucy Aubrie A Goetze Susanne S Freitag Christine M CM Daly Mark J MJ Walsh Christopher A CA Buxbaum Joseph D JD Yu Timothy W TW
Nature genetics 20190617 7
Autism spectrum disorder (ASD) affects up to 1 in 59 individuals<sup>1</sup>. Genome-wide association and large-scale sequencing studies strongly implicate both common variants<sup>2-4</sup> and rare de novo variants<sup>5-10</sup> in ASD. Recessive mutations have also been implicated<sup>11-14</sup> but their contribution remains less well defined. Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding to approximately 5% ...[more]