A reference panel of 64,976 haplotypes for genotype imputation

2.50
Hdl Handle:
http://hdl.handle.net/11287/620283
Title:
A reference panel of 64,976 haplotypes for genotype imputation
Authors:
McCarthy, S. [et al]; Hattersley, Andrew T.
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.
Citation:
A reference panel of 64,976 haplotypes for genotype imputation. Nature Genetics 2016 48(10) 1279-1283
Publisher:
Nature
Journal:
Nature Genetics
Issue Date:
Oct-2016
URI:
http://hdl.handle.net/11287/620283
DOI:
10.1038/ng.3643
PubMed ID:
27548312
Additional Links:
http://dx.doi.org/10.1038/ng.3643
Type:
Journal Article
Language:
en
Appears in Collections:
Diabetes/Endocrine Services; 2016 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorMcCarthy, S. [et al]en
dc.contributor.authorHattersley, Andrew T.en
dc.date.accessioned2017-03-14T15:00:16Z-
dc.date.available2017-03-14T15:00:16Z-
dc.date.issued2016-10-
dc.identifier.citationA reference panel of 64,976 haplotypes for genotype imputation. Nature Genetics 2016 48(10) 1279-1283en
dc.identifier.pmid27548312-
dc.identifier.doi10.1038/ng.3643-
dc.identifier.urihttp://hdl.handle.net/11287/620283-
dc.description.abstractWe 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.en
dc.language.isoenen
dc.publisherNatureen
dc.relation.urlhttp://dx.doi.org/10.1038/ng.3643en
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleA reference panel of 64,976 haplotypes for genotype imputationen
dc.typeJournal Articleen
dc.identifier.journalNature Geneticsen
dc.type.versionPublisheden

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