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A reference panel of 64,976 haplotypes for genotype imputation

Academic Article
Publication Date:
2016
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.
Iris type:
01.01 Articolo in rivista
Keywords:
human haplotypes; whole-genome sequence; genotype; SNPs; association studies; imputation; phasing
List of contributors:
Cucca, Francesco; Angius, Andrea; Busonero, Fabio; Sidore, Carlo
Authors of the University:
ANGIUS ANDREA
BUSONERO FABIO
SIDORE CARLO
Handle:
https://iris.cnr.it/handle/20.500.14243/382825
Published in:
NATURE GENETICS (PRINT)
Journal
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