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A reference panel of 64,976 haplotypes for genotype imputation

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ng.3643.pdf (537.81 KB)

Publication date

2016-08-22

Authors

McCarthy, Shane
Das, Sayantan
Kretzschmar, Warren
Delaneau, Olivier
Wood, Andrew R
Teumer, Alexander
Kang, Hyun Min
Fuchsberger, Christian
Danecek, Petr
Sharp, Kevin

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DOI

https://doi.org/10.1038/ng.3643

Document Type

Letter

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taverne

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.

Keywords

Taverne, Journal Article

Citation

McCarthy, S, Das, S, Kretzschmar, W, Delaneau, O, Wood, A R, Teumer, A, Kang, H M, Fuchsberger, C, Danecek, P, Sharp, K, Luo, Y, Sidore, C, Kwong, A, Timpson, N, Koskinen, S, Vrieze, S, Scott, L J, Zhang, H, Mahajan, A, Veldink, J, Peters, U, Pato, C, van Duijn, C M, Gillies, C E, Gandin, I, Mezzavilla, M, Gilly, A, Cocca, M, Traglia, M, Angius, A, Barrett, J C, Boomsma, D, Branham, K, Breen, G, Brummett, C M, Busonero, F, Campbell, H, Chan, A, Chen, S, Chew, E, Collins, F S, Corbin, L J, Smith, G D, Dedoussis, G, Dorr, M, Farmaki, A-E, Van den Berg, L H, Van Rheenen, W, de Bakker, P I W, Dekker, A & Haplotype Reference Consortium 2016, 'A reference panel of 64,976 haplotypes for genotype imputation', Nature Genetics, vol. 48, pp. 1279–1283. https://doi.org/10.1038/ng.3643

URI

https://dspace.library.uu.nl/handle/1874/346608