A reference panel of 64,976 haplotypes for genotype imputation

用于基因型推断的64,976个单倍型的参考面板

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作者：McCarthy,Shane,Das,Sayantan,Kretzschmar,Warren,Delaneau,Olivier,Wood,Andrew R,Teumer,Alexander,Kang,Hyun Min,Fuchsberger,Christian,Danecek,Petr,Sharp,Kevin,Luo,Yang,Sidore,Carlo,Kwong,Alan,Timpson,Nicholas,Koskinen,Seppo,Vrieze,Scott,Scott,Laura J,Zhang,He,Mahajan,Anubha,Veldink,Jan,Peters,Ulrike,Pato,Carlos,van Duijn,Cornelia M,Gillies,Christopher E,Gandin,Ilaria,Mezzavilla,Massimo,Gilly,Arthur,Cocca,Massimiliano,Traglia,Michela,Angius,Andrea,Barrett,Jeffrey C,Boomsma,Dorrett,Branham,Kari,Breen,Gerome,Brummett,Chad M,Busonero,Fabio,Campbell,Harry,Chan,Andrew,Chen,Sai,Chew,Emily,Collins,Francis S,Corbin,Laura J,Smith,George Davey,Dedoussis,George,Dorr,Marcus,Farmaki,Aliki-Eleni,Ferrucci,Luigi,Forer,Lukas,Fraser,Ross M,Gabriel,Stacey,Levy,Shawn,Groop,Leif,Harrison,Tabitha,Hattersley,Andrew,Holmen,Oddgeir L,Hveem,Kristian,Kretzler,Matthias,Lee,James C,McGue,Matt,Meitinger,Thomas,Melzer,David,Min,Josine L,Mohlke,Karen L,Vincent,John B,Nauck,Matthias,Nickerson,Deborah,Palotie,Aarno,Pato,Michele,Pirastu,Nicola,McInnis,Melvin,Richards,J Brent,Sala,Cinzia,Salomaa,Veikko,Schlessinger,David,Schoenherr,Sebastian,Slagboom,P Eline,Small,Kerrin,Spector,Timothy,Stambolian,Dwight,Tuke,Marcus,Tuomilehto,Jaakko,Van den Berg,Leonard H,Van Rheenen,Wouter,Volker,Uwe,Wijmenga,Cisca,Toniolo,Daniela,Zeggini,Eleftheria,Gasparini,Paolo,Sampson,Matthew G,Wilson,James F,Frayling,Timothy,de Bakker,Paul I W,Swertz,Morris A,McCarroll,Steven,Kooperberg,Charles,Dekker,Annelot,Altshuler,David,Willer,Cristen,Iacono,William,Ripatti,Samuli,Soranzo,Nicole,Walter,Klaudia,Swaroop,Anand,Cucca,Francesco,Anderson,Carl A,Myers,Richard M,Boehnke,Michael,McCarthy,Mark I,Durbin,Richard
期刊：Nature Genetics影响因子：29.000
时间：2016起止号：2016 Oct;48(10):1279-83
doi：10.1038/ng.3643

Abstract

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% and a large increase in the number of SNPs tested in association studies, and it 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.

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