Journal article
Copy number polymorphisms in new HapMap III and Singapore populations
CS Ku, SM Teo, N Naidoo, X Sim, YY Teo, Y Pawitan, M Seielstad, KS Chia, A Salim
Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2011
DOI: 10.1038/jhg.2011.54
Abstract
Copy number variations can be identified using newer genotyping arrays with higher single nucleotide polymorphisms (SNPs) density and copy number probes accompanied by newer algorithms. McCarroll et al. (2008) applied these to the HapMap II samples and identified 1316 copy number polymorphisms (CNPs). In our study, we applied the same approach to 859 samples from three Singapore populations and seven HapMap III populations. Approximately 50% of the 1291 autosomal CNPs were found to be polymorphic only in populations of non-African ancestry. Pairwise comparisons among the 10 populations showed substantial differences in the CNPs frequencies. Additionally, 698 CNPs showed significant differenc..
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Funding Acknowledgements
This study was supported by the Yong Loo Lin School of Medicine, the Life Science Institute and the Office of Deputy President (Research and Technology), National University of Singapore. We also acknowledge the technical and financial support of the Genome Institute of Singapore and Agency for Science, Technology and Research, Singapore.