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Title: Population diversity as quantified by inter-population variation in patterns of linkage disequilibrium
Keywords: linkage disequilibrium, population genetics, genome-wide association studies, haplotype, meta-analysis, fine-mapping
Issue Date: 21-Aug-2012
Citation: ONG TWEE HEE (2012-08-21). Population diversity as quantified by inter-population variation in patterns of linkage disequilibrium. ScholarBank@NUS Repository.
Abstract: Linkage disequilibrium (LD) differences between populations could result in failure of replicating signals of phenotype association in multiple genome-wide association studies of diverse populations. These inter-population LD differences however can be used to fine-map the common causal variant associated with the phenotype. We thus proposed a method varLD to assess and quantify the extent of LD variations between populations, and applied it on an assembled resource of genetic variation data on the three local Asian ethnic population groups in Singapore. We also investigated the utility of LD variation and other population genetic metrics on diverse populations in the efficiency of meta-analysis for association discovery and fine-mapping of genetic causal variants. Leveraging on the haplotype diversity in populations which also contributes to varying levels of LD, we proposed a tool, HapFinder which is able to identify the haplotype which a causal variant resides in GWAS studies.
Appears in Collections:Ph.D Theses (Open)

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