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 organization: Institute for Molecular Medicine Finland
Aarno Palotie / Principal Investigator
Samuli Olli Ripatti / Principal Investigator
Complex Disease Genetics
Genomics of Neurological and Neuropsychiatric Disorders
Date: 2017-06
Language: eng
Number of pages: 8
Belongs to series: European Journal of Human Genetics
ISSN: 1018-4813
DOI: https://doi.org/10.1038/ejhg.2017.51
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
Peer reviewed: Yes
Rights: unspecified
Usage restriction: openAccess
Self-archived version: publishedVersion


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