Article
Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.
American journal of human genetics - 5 Mar 2015
Leslie Elizabeth J, Taub Margaret A, Liu Huan, Steinberg Karyn Meltz, Koboldt Daniel C, Zhang Qunyuan, Carlson Jenna C, Hetmanski Jacqueline B, Wang Hang, Larson David E, Fulton Robert S, Kousa Youssef A, Fakhouri Walid D, Naji Ali, Ruczinski Ingo, Begum Ferdouse, Parker Margaret M, Busch Tamara, Standley Jennifer, Rigdon Jennifer, Hecht Jacqueline T, Scott Alan F, Wehby George L, Christensen Kaare, Czeizel Andrew E, Deleyiannis Frederic W-B, Schutte Brian C, Wilson Richard K, Cornell Robert A, Lidral Andrew C, Weinstock George M, Beaty Terri H, Marazita Mary L, Murray Jeffrey C
Abstract excerpt
Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants are unknown. To address this, we selected 13 regions from GWASs and other studies, performed targeted sequencing in 1,409 Asian and European trios, and carried out a series of statistical and functional analyses. Within a cluster of strongly associated common...
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