Contract grant sponsor: Development Fund of the University of Tartu; Contract grant sponsor: Wellcome Trust; Contract grant numbers: WT098051; WT081682; WT076113; WT090532.
Genome-Wide Association Analysis of Imputed Rare Variants: Application to Seven Common Complex Diseases
Article first published online: 5 SEP 2012
© 2012 Wiley Periodicals, Inc.
Volume 36, Issue 8, pages 785–796, December 2012
How to Cite
Mägi, R., Asimit, J. L., Day-Williams, A. G., Zeggini, E. and Morris, A. P. (2012), Genome-Wide Association Analysis of Imputed Rare Variants: Application to Seven Common Complex Diseases. Genet. Epidemiol., 36: 785–796. doi: 10.1002/gepi.21675
- Issue published online: 14 NOV 2012
- Article first published online: 5 SEP 2012
- Manuscript Accepted: 27 JUL 2012
- Manuscript Revised: 23 JUL 2012
- Manuscript Received: 16 APR 2012
- Development Fund of the University of Tartu
- Wellcome Trust. Grant Numbers: WT098051, WT081682, WT076113, WT090532
- Centre of Transitional Genomics. Grant Number: SP1GVARENG
Disclaimer: Supplementary materials have been peer-reviewed but not copyedited.
Fig. 1. Number of rare variants observed (or well imputed) for different strategies for assaying genetic variation in a 50 kb gene, as a function of the size of the reference panel.
Fig. 2. Power, at a nominal significance level of P < 0.05, to detect association of an accumulation of minor alleles with a quantitative trait, for different strategies for assaying rare genetic variation in a 50 kb gene, as a function of the genotyping and sequencing error rate.
Fig. 3. Quantile-quantile plots summarising association of seven diseases from the WTCCC experiment with accumulations of well imputed rare variants (MAF < 1% and info score of at least 0.4) within genes (as defined by the UCSC human genome database).
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