Ontology highlight
ABSTRACT:
SUBMITTER: An JY
PROVIDER: S-EPMC6432922 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Science (New York, N.Y.) 20181201 6420
Whole-genome sequencing (WGS) has facilitated the first genome-wide evaluations of the contribution of de novo noncoding mutations to complex disorders. Using WGS, we identified 255,106 de novo mutations among sample genomes from members of 1902 quartet families in which one child, but not a sibling or their parents, was affected by autism spectrum disorder (ASD). In contrast to coding mutations, no noncoding functional annotation category, analyzed in isolation, was significantly associated wit ...[more]