A reference panel of 64,976 haplotypes for genotype imputation.
A reference panel of 64,976 haplotypes for genotype imputation.
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DOI：
10.1038/ng.3643
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发表时间：
2016-10
期刊：
影响因子：
30.8
通讯作者：
Haplotype Reference Consortium
中科院分区：
文献类型：
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作者：
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 JC;Boomsma D;Branham K;Breen G;Brummett CM;Busonero F;Campbell H;Chan A;Chen S;Chew E;Collins FS;Corbin LJ;Smith GD;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 JC;McGue M;Meitinger T;Melzer D;Min JL;Mohlke KL;Vincent JB;Nauck M;Nickerson D;Palotie A;Pato M;Pirastu N;McInnis M;Richards JB;Sala C;Salomaa V;Schlessinger D;Schoenherr S;Slagboom PE;Small K;Spector T;Stambolian D;Tuke M;Tuomilehto J;Van den Berg LH;Van Rheenen W;Volker U;Wijmenga C;Toniolo D;Zeggini E;Gasparini P;Sampson MG;Wilson JF;Frayling T;de Bakker PI;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 CA;Myers RM;Boehnke M;McCarthy MI;Durbin R;Haplotype Reference Consortium
我们描述了一个参考组的64，976人类单倍型在39，235，157单核苷酸多态性构建的全基因组序列数据从20个研究主要是欧洲血统。使用这种资源导致在低至0.1%的次要等位基因频率下精确的基因型插补，在关联研究中测试的SNP数量大幅增加，并且可以帮助发现和细化因果基因座。我们描述了远程服务器资源，使研究人员进行插补和阶段一致和有效。
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.