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A reference panel o...
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McCarthy, ShaneWellcome Trust Sanger Institute
(author)
A reference panel of 64,976 haplotypes for genotype imputation
- Article/chapterEnglish2016
Publisher, publication year, extent ...
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2016-08-22
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Springer Science and Business Media LLC,2016
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5 s.
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LIBRIS-ID:oai:lup.lub.lu.se:d9051ca5-69ec-4527-870a-53c06a0c2cc2
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https://lup.lub.lu.se/record/d9051ca5-69ec-4527-870a-53c06a0c2cc2URI
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https://doi.org/10.1038/ng.3643DOI
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
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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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Frayling, TimothyUniversity of Exeter
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Swertz, Morris A.University of Groningen
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McCarroll, StevenMassachusetts General Hospital
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Willer, CristenUniversity of Michigan
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Soranzo, NicoleUniversity of Cambridge
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Anderson, Carl A.Wellcome Trust Sanger Institute
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Durbin, RichardWellcome Trust Sanger Institute
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Marchini, JonathanUniversity of Oxford
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Wellcome Trust Sanger InstituteUniversity of Michigan
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In:Nature Genetics: Springer Science and Business Media LLC48:10, s. 1279-12831061-40361546-1718
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McCarthy, Shane
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Das, Sayantan
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Schlessinger, Da ...
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Wijmenga, Cisca
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Toniolo, Daniela
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Zeggini, Elefthe ...
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Frayling, Timoth ...
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Nature Genetics
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