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A reference panel of 64,976 haplotypes for genotype imputation #MMPMID27548312
McCarthy S; Das S; Kretzschmar W; Delaneau O; Wood AR; Teumer A; Kang HM; Fuchsberger C; Danecek P; Sharp K; Luo Y; Sidore C; Kwong A; Timpson N; Koskinen S; Vrieze S; Scott LJ; Zhang H; Mahajan A; Veldink J; Peters U; Pato C; van Duijn CM; Gillies CE; Gandin I; Mezzavilla M; Gilly A; Cocca M; Traglia M; Angius A; Barrett J; Boomsma DI; Branham K; Breen G; Brummet C; Busonero F; Campbell H; Chan A; Chen S; Chew E; Collins FS; Corbin L; Davey Smith G; Dedoussis G; Dorr M; Farmaki AE; Ferrucci L; Forer L; Fraser RM; Gabriel S; Levy S; Groop L; Harrison T; Hattersley A; Holmen OL; Hveem K; Kretzler M; Lee J; McGue M; Meitinger T; Melzer D; Min J; Mohlke KL; Vincent J; Nauck M; Nickerson D; Palotie A; Pato M; Pirastu N; McInnis M; Richards B; Sala C; Salomaa V; Schlessinger D; Schoenheer S; Slagboom PE; Small K; Spector T; Stambolian D; Tuke M; Tuomilehto J; Van den Berg L; Van Rheenen W; Volker U; Wijmenga C; Toniolo D; Zeggini E; Gasparini P; Sampson MG; Wilson JF; Frayling T; de Bakker P; Swertz MA; McCarroll S; Kooperberg C; Dekker A; Altshuler D; Willer C; Iacono W; Ripatti S; Soranzo N; Walter K; Swaroop A; Cucca F; Anderson C; Boehnke M; McCarthy MI; Durbin R; Abecasis G; Marchini J
Nat Genet 2016[Oct]; 48 (10): 1279-83 PMID27548312show ga
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1%, a large increase in the number of SNPs tested in association studies and can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing consistently and efficiently.