Ontology highlight
ABSTRACT:
SUBMITTER: Bishop MR
PROVIDER: S-EPMC7332647 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
American journal of human genetics 20200622 1
Although de novo mutations (DNMs) are known to increase an individual's risk of congenital defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the most common human birth defects. Therefore, whole-genome sequencing of 756 child-parent trios of European, Colombian, and Taiwanese ancestry was performed to determine the contributions of coding DNMs to an individual's OFC risk. Overall, we identified a significant excess of loss-of-function DNMs in genes highly expre ...[more]