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Title:

A reference panel of 64,976 haplotypes for genotype imputation.

Document type:
Evaluation Studies; Journal Article; Article
Author(s):
McCarthy, Shane; Das, Sayantan; Kretzschmar, Warren; Delaneau, Olivier; Wood, Andrew R; Teumer, Alexander; Kang, Hyun Min; Fuchsberger, Christian; Danecek, Petr; Sharp, Kevin; Luo, Yang; Sidore, Carlo; Kwong, Alan; Timpson, Nicholas; Koskinen, Seppo; Vrieze, Scott; Scott, Laura J; Zhang, He; Mahajan, Anubha; Veldink, Jan; Peters, Ulrike; Pato, Carlos; van Duijn, Cornelia M; Gillies, Christopher E; Gandin, Ilaria; Mezzavilla, Massimo; Gilly, Arthur; Cocca, Massimiliano; Traglia, Michela; Angius,...     »
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 consi...     »
Journal title abbreviation:
Nat Genet
Year:
2016
Journal volume:
48
Journal issue:
10
Pages contribution:
1279-83
Language:
eng
Fulltext / DOI:
doi:10.1038/ng.3643
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/27548312
Print-ISSN:
1061-4036
TUM Institution:
Institut für Humangenetik
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