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A reference panel of 64,976 haplotypes for genotype imputation

McCarthy, S; Das, S; Kretzschmar, W; Delaneau, O; Wood, AR; Teumer, A; Kang, HM; ... Marchini, J; + view all (2016) A reference panel of 64,976 haplotypes for genotype imputation. [Letter]. Nature Genetics , 48 (10) pp. 1279-1283. 10.1038/ng.3643. Green open access

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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.

Type: Article
Title: A reference panel of 64,976 haplotypes for genotype imputation
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/ng.3643
Publisher version: https://doi.org/10.1038/ng.3643
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Genome-wide association studies, Population genetics
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science
URI: https://discovery.ucl.ac.uk/id/eprint/10064548
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