Original paper
Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel
Abstract
Genetic imputation is a cost-efficient way to improve the power and resolution of genome-wide association (GWA) studies. Current publicly accessible imputation reference panels accurately predict genotypes for common variants with minor allele frequency (MAF)≥5% and low-frequency variants (0.5≤MAF<5%) across diverse populations, but the imputation of rare variation (MAF<0.5%) is still rather limited. In the current study, we evaluate imputation...
Paper Details
Title
Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel
Published Date
Apr 12, 2017
Volume
25
Issue
7
Pages
869 - 876
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