These authors contributed equally to this work.
Using Population Mixtures to Optimize the Utility of Genomic Databases: Linkage Disequilibrium and Association Study Design in India
Article first published online: 30 MAY 2008
© 2008 The Authors. Journal compilation © 2008 University College London
Annals of Human Genetics
Volume 72, Issue 4, pages 535–546, July 2008
How to Cite
Pemberton, T. J., Jakobsson, M., Conrad, D. F., Coop, G., Wall, J. D., Pritchard, J. K., Patel, P. I. and Rosenberg, N. A. (2008), Using Population Mixtures to Optimize the Utility of Genomic Databases: Linkage Disequilibrium and Association Study Design in India. Annals of Human Genetics, 72: 535–546. doi: 10.1111/j.1469-1809.2008.00457.x
- Issue published online: 30 MAY 2008
- Article first published online: 30 MAY 2008
- Received: 26 November 2007 Accepted: 2 February 2008
- association mapping;
- Indian population;
- single-nucleotide polymorphism;
When performing association studies in populations that have not been the focus of large-scale investigations of haplotype variation, it is often helpful to rely on genomic databases in other populations for study design and analysis – such as in the selection of tag SNPs and in the imputation of missing genotypes. One way of improving the use of these databases is to rely on a mixture of database samples that is similar to the population of interest, rather than using the single most similar database sample. We demonstrate the effectiveness of the mixture approach in the application of African, European, and East Asian HapMap samples for tag SNP selection in populations from India, a genetically intermediate region underrepresented in genomic studies of haplotype variation.