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Article

Improving accuracy of rare variant imputation with a two-step imputation approach.

European journal of human genetics : EJHG - 1 Mar 2015

Kreiner-Møller Eskil, Medina-Gomez Carolina, Uitterlinden André G, Rivadeneira Fernando, Estrada Karol

Abstract excerpt

Genotype imputation has been the pillar of the success of genome-wide association studies (GWAS) for identifying common variants associated with common diseases. However, most GWAS have been run using only 60 HapMap samples as reference for imputation, meaning less frequent and rare variants not being comprehensively scrutinized. Next-generation arrays ensuring sufficient coverage together with new reference...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24939589
DOI: 10.1038/ejhg.2014.91
PMCID: PMC4326719

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