Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel

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&l...

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Bibliographic Details
Published in:	European journal of human genetics : EJHG Vol. 25; no. 7; pp. 869 - 876
Main Authors:	Mitt, Mario, Kals, Mart, Pärn, Kalle, Gabriel, Stacey B, Lander, Eric S, Palotie, Aarno, Ripatti, Samuli, Morris, Andrew P, Metspalu, Andres, Esko, Tõnu, Mägi, Reedik, Palta, Priit
Format:	Journal Article
Language:	English
Published:	England Nature Publishing Group 01.06.2017
Subjects:	Accuracy Bioinformatics Consortia Female Gene Frequency Genetics Genome, Human Genome-Wide Association Study - methods Genome-Wide Association Study - standards Genomes Genotype & phenotype Genotypes Haplotypes Humans Licenses Male Polymorphism, Single Nucleotide Population Reference Standards Sequence Analysis, DNA - methods Sequence Analysis, DNA - standards Studies United Kingdom > UK United States > US Finland Estonia
ISSN:	1018-4813, 1476-5438, 1476-5438
Online Access:	Get full text
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