Nature GeneticsGeneticsPeer-reviewed journal article
A reference panel of 64,976 haplotypes for genotype imputation
Shane McCarthyiD, Sayantan DasiD, Warren Kretzschmar, Richard Durbin, Goncalo Abecasis, Jonathan MarchiniiD
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%, a large increase in the number of SNPs tested in association studies and 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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