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Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.
Wood AR, Perry JR, Tanaka T, Hernandez DG, Zheng HF, Melzer D, Gibbs JR, Nalls MA, Weedon MN, Spector TD, Richards JB, Bandinelli S, Ferrucci L, Singleton AB, Frayling TM. Wood AR, et al. Among authors: frayling tm. PLoS One. 2013 May 16;8(5):e64343. doi: 10.1371/journal.pone.0064343. Print 2013. PLoS One. 2013. PMID: 23696881 Free PMC article.
Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.
Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, Walker M, Levy JC, Sampson M, Halford S, McCarthy MI, Hattersley AT, Frayling TM. Gloyn AL, et al. Among authors: frayling tm. Diabetes. 2003 Feb;52(2):568-72. doi: 10.2337/diabetes.52.2.568. Diabetes. 2003. PMID: 12540637
Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene.
Weedon MN, Frayling TM, Shields B, Knight B, Turner T, Metcalf BS, Voss L, Wilkin TJ, McCarthy A, Ben-Shlomo Y, Davey Smith G, Ring S, Jones R, Golding J, Byberg L, Mann V, Axelsson T, Syvänen AC, Leon D, Hattersley AT. Weedon MN, et al. Among authors: frayling tm. Diabetes. 2005 Feb;54(2):576-81. doi: 10.2337/diabetes.54.2.576. Diabetes. 2005. PMID: 15677518
418 results