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

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http://hdl.handle.net/10138/198889

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Mitt , M , Kals , M , Parn , K , Gabriel , S B , Lander , E S , Palotie , A , Ripatti , S , Morris , A P , Metspalu , A , Esko , T , Magi , R & Palta , P 2017 , ' Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel ' , European Journal of Human Genetics , vol. 25 , no. 7 , pp. 869-876 . https://doi.org/10.1038/ejhg.2017.51

Title: Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel
Author: Mitt, Mario; Kals, Mart; Parn, Kalle; Gabriel, Stacey B.; Lander, Eric S.; Palotie, Aarno; Ripatti, Samuli; Morris, Andrew P.; Metspalu, Andres; Esko, Tonu; Magi, Reedik; Palta, Priit
Contributor: University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Institute for Molecular Medicine Finland
Date: 2017-06
Language: eng
Number of pages: 8
Belongs to series: European Journal of Human Genetics
ISSN: 1018-4813
URI: http://hdl.handle.net/10138/198889
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
Subject: GENOME-WIDE ASSOCIATION
GENOTYPE IMPUTATION
GENETIC ARCHITECTURE
SAMPLES
LOCI
METAANALYSIS
NETHERLANDS
HAPLOTYPES
THOUSANDS
EUROPEANS
3111 Biomedicine
1182 Biochemistry, cell and molecular biology
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