Please use this identifier to cite or link to this item: https://doi.org/10.1186/1471-2164-14-569
Title: Combined genotype and haplotype tests for region-based association studies
Authors: Zakharov, S.
Wong, T.Y.
Aung, T.
Vithana, E.N.
Khor, C.C. 
Salim, A. 
Thalamuthu, A.
Keywords: Association analysis
Genotype-based tests
Haplotype-based tests
Test statistic combination
Issue Date: 21-Aug-2013
Citation: Zakharov, S., Wong, T.Y., Aung, T., Vithana, E.N., Khor, C.C., Salim, A., Thalamuthu, A. (2013-08-21). Combined genotype and haplotype tests for region-based association studies. BMC Genomics 14 (1) : -. ScholarBank@NUS Repository. https://doi.org/10.1186/1471-2164-14-569
Abstract: Background: Although single-SNP analysis has proven to be useful in identifying many disease-associated loci, region-based analysis has several advantages. Empirically, it has been shown that region-based genotype and haplotype approaches may possess much higher power than single-SNP statistical tests. Both high quality haplotypes and genotypes may be available for analysis given the development of next generation sequencing technologies and haplotype assembly algorithms. Results: As generally it is unknown whether genotypes or haplotypes are more relevant for identifying an association, we propose to use both of them with the purpose of preserving high power under both genotype and haplotype disease scenarios. We suggest two approaches for a combined association test and investigate the performance of these two approaches based on a theoretical model, population genetics simulations and analysis of a real data set. Conclusions: Based on a theoretical model, population genetics simulations and analysis of a central corneal thickness (CCT) Genome Wide Association Study (GWAS) data set we have shown that combined genotype and haplotype approach has a high potential utility for applications in association studies. © 2013 Zakharov et al.; licensee BioMed Central Ltd.
Source Title: BMC Genomics
URI: http://scholarbank.nus.edu.sg/handle/10635/108731
ISSN: 14712164
DOI: 10.1186/1471-2164-14-569
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