Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'.

doi:10.1038/ejhg.2014.19

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Article

Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'.

European journal of human genetics : EJHG - 1 Nov 2014

Deelen Patrick, Menelaou Androniki, van Leeuwen Elisabeth M, Kanterakis Alexandros, van Dijk Freerk, Medina-Gomez Carolina, Francioli Laurent C, Hottenga Jouke Jan, Karssen Lennart C, Estrada Karol, Kreiner-Møller Eskil, Rivadeneira Fernando, van Setten Jessica, Gutierrez-Achury Javier, Westra Harm-Jan, Franke Lude, van Enckevort David, Dijkstra Martijn, Byelas Heorhiy, van Duijn Cornelia M, de Bakker Paul I W, Wijmenga Cisca, Swertz Morris A

Abstract excerpt

Although genome-wide association studies (GWAS) have identified many common variants associated with complex traits, low-frequency and rare variants have not been interrogated in a comprehensive manner. Imputation from dense reference panels, such as the 1000 Genomes Project (1000G), enables testing of ungenotyped variants for association. Here we present the results of imputation using a large, new...

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PMID: 24896149
DOI: 10.1038/ejhg.2014.19
PMCID: PMC4200431

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