Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.

ABSTRACT: We performed a comprehensive assessment of rare inherited variation in autism spectrum disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families with multiple affected children. We implicate 69 genes in ASD risk, including 24 passing genome-wide Bonferroni correction and 16 new ASD risk genes, most supported by rare inherited variants, a substantial extension of previous findings. Biological pathways enriched for genes harboring inherited variants represent cytoskeletal organization and ion transport, which are distinct from pathways implicated in previous studies. Nevertheless, the de novo and inherited genes contribute to a common protein-protein interaction network. We also identified structural variants (SVs) affecting non-coding regions, implicating recurre

SUBMITTER: Ruzzo EK 

PROVIDER: S-EPMC7102900 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature