Article
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
American journal of human genetics - 2 Jul 2020
Bishop Madison R, Diaz Perez Kimberly K, Sun Miranda, Ho Samantha, Chopra Pankaj, Mukhopadhyay Nandita, Hetmanski Jacqueline B, Taub Margaret A, Moreno-Uribe Lina M, Valencia-Ramirez Luz Consuelo, Restrepo Muñeton Claudia P, Wehby George, Hecht Jacqueline T, Deleyiannis Frederic, Weinberg Seth M, Wu-Chou Yah Huei, Chen Philip K, Brand Harrison, Epstein Michael P, Ruczinski Ingo, Murray Jeffrey C, Beaty Terri H, Feingold Eleanor, Lipinski Robert J, Cutler David J, Marazita Mary L, Leslie Elizabeth J
Abstract excerpt
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....
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