期刊
NATURE GENETICS
卷 48, 期 10, 页码 1279-1283出版社
NATURE PORTFOLIO
DOI: 10.1038/ng.3643
关键词
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资金
- ERC [617306]
- Wellcome Trust [WT097307, WT090851]
- European Research Council (ERC) [617306] Funding Source: European Research Council (ERC)
- Medical Research Council [MC_PC_15018, G0601261, MC_UU_12013/3, G9815508, MR/J00314X/1] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0611-10219, NF-SI-0611-10099] Funding Source: researchfish
- MRC [MR/J00314X/1, MC_UU_12013/3, G0900747, G0700931, G0601261, G0601966] Funding Source: UKRI
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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