Ontology highlight
ABSTRACT:
SUBMITTER: Lim ET
PROVIDER: S-EPMC5672813 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Nature neuroscience 20170717 9
We systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed resequencing using multiple independent technologies. We identified 7.5% of de novo mutations as PZMs, 83.3% of which were not described in previous studies. Damaging, nonsynonymous PZMs within critical exons of prenatally expressed genes were more common in ASD probands than con ...[more]