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A reference panel of 64,976 haplotypes for genotype imputation

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.
Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted manuscript

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Publisher copy:
10.1038/ng.3643

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Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
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Author
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Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
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Department:
Oxford, MPLS, Statistics>
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Author
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Department:
Oxford, MSD, Oxford NIHR Biomedical Research Centre
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Department:
Oxford, MPLS, Statistics>
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Grant:
WT097307, WT090851
Publisher:
Nature Publishing Group Publisher's website
Journal:
Nature Genetics Journal website
Volume:
48
Pages:
1279–1283
Publication date:
2016-08-22
Acceptance date:
2016-07-18
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Pubs id:
pubs:640797
URN:
uri:f64e7ec1-b682-4ce8-bcf3-4f6c14d3478e
UUID:
uuid:f64e7ec1-b682-4ce8-bcf3-4f6c14d3478e
Local pid:
pubs:640797
Language:
English

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