Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios

Volume: 107, Issue: 1, Pages: 124 - 136
Published: Jul 1, 2020
Abstract
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...
Paper Details
Title
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios
Published Date
Jul 1, 2020
Volume
107
Issue
1
Pages
124 - 136
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