Genome-wide characteristics of <i>de novo</i> mutations in autism.

ABSTRACT: De novo mutations (DNMs) are important in Autism Spectrum Disorder (ASD), but so far analyses have mainly been on the ~1.5% of the genome encoding genes. Here, we performed whole genome sequencing (WGS) of 200 ASD parent-child trios and characterized germline and somatic DNMs. We confirmed that the majority of germline DNMs (75.6%) originated from the father, and these increased significantly with paternal age only (p=4.2×10^-10). However, when clustered DNMs (those within 20kb) were found in ASD, not only did they mostly originate from the mother (p=7.7×10^-13), but they could also be found adjacent to de novo copy number variations (CNVs) where the mutation rate was significantly elevated (p=2.4×10^-24). By comparing DNMs detected in controls,

SUBMITTER: Yuen RK 

PROVIDER: S-EPMC4980121 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature