e-Article
Rates of contributory de novo mutation in high and low-risk autism families
Document Type
article
Author
Source
Communications Biology, Vol 4, Iss 1, Pp 1-10 (2021)
Subject
Language
English
ISSN
2399-3642
Abstract
Yoon, Munoz, et al. investigate the rate of de novo coding and non-coding variants in families with high- and low-risk for autism using whole-genome sequence data from collections of families with autism. They demonstrate that de novo intronic variants increase the risk of autism, that the contribution of de novo variants is significantly larger in low-risk families, and that de novo variants contribute to 30-39% of cases of all autism.