Coding de novo mutations identified by WGS reveal novel orofacial cleft genes
Madison R. Bishop, Kimberly K. Diaz Perez, Miranda R. Sun, Samantha Ho, Pankaj Chopra, Nandita Mukhopadhyay, Jacqueline B. Hetmanski, Margaret A. Taub, Lina M. Moreno‐Uribe, Luz Consuelo Valencia‐Ramirez, Claudia P. Restrepo Muñeton, George L. Wehby, Jacqueline T. Hecht, Frederic W.‐D. Deleyiannis, Seth Michael Weinberg, , Elizabeth J. Leslie
The paper identifies coding de novo mutations in whole-genome sequencing data from OFC cases and finds enrichment in genes expressed in craniofacial tissues and linked to OFC syndromes.
bioRxiv · Apr 1, 2020 · PreprintGenetics