Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting
Kimberly K. Diaz Perez, Sarah W. Curtis, Alba Sanchis‐Juan, Xuefang Zhao, S. Taylor Head, Samantha Ho, Bridget Carter, Toby Goldstein McHenry, Madison R. Bishop, Luz Consuelo Valencia‐Ramirez, Claudia Restrepo, Jacqueline T. Hecht, Lina M. Moreno Uribe, George L. Wehby, Seth Michael Weinberg, , Elizabeth J. Leslie
The paper estimates the diagnostic yield of sequencing 418 genes in OFC cases and controls, finding a higher prevalence of likely pathogenic variants in cases.
Genetics in Medicine · Jun 15, 2023Peer-reviewedGenetic & Genomic Medicine