Article
A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals.
Genetic epidemiology - 1 Sept 2019
Carlson Jenna C, Anand Deepti, Butali Azeez, Buxo Carmen J, Christensen Kaare, Deleyiannis Frederic, Hecht Jacqueline T, Moreno Lina M, Orioli Ieda M, Padilla Carmencita, Shaffer John R, Vieira Alexandre R, Wehby George L, Weinberg Seth M, Murray Jeffrey C, Beaty Terri H, Saadi Irfan, Lachke Salil A, Marazita Mary L, Feingold Eleanor, Leslie Elizabeth J
Abstract excerpt
Phenotypic heterogeneity is a hallmark of complex traits, and genetic studies of such traits may focus on them as a single diagnostic entity or by analyzing specific components. For example, in orofacial clefting (OFC), three subtypes-cleft lip (CL), cleft lip and palate (CLP), and cleft palate (CP) have been studied separately and in combination. To further dissect the genetic architecture of OFCs and how a...
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