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

@inproceedings{Deelen2014ImprovedIQ,
  title={Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands'},
  author={Patrick Deelen and Androniki Menelaou and Elisabeth M. van Leeuwen and Alexandros Kanterakis and Freerk van Dijk and Carolina Medina-Gomez and Laurent Francioli and Jouke Jan Hottenga and Lennart C. Karssen and Karol Estrada and Eskil Kreiner-M\oller and Fernando Rivadeneira and Jessica van Setten and Javier Guti{\'e}rrez-Achury and Harm-Jan Westra and Lude Franke and David van Enckevort and Martijn Dijkstra and Heorhiy Byelas and Cornelia M van Duijn and Paul I W de Bakker and Cisca Wijmenga and Morris A. Swertz},
  booktitle={European Journal of Human Genetics},
  year={2014}
}
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 population-specific panel: the Genome of The Netherlands (GoNL). We benchmarked the performance… CONTINUE READING