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Full-Text Articles in Life Sciences
Genome-Scale Genetics: Lessons From Founder Populations, Eimear Elizabeth Kenny
Genome-Scale Genetics: Lessons From Founder Populations, Eimear Elizabeth Kenny
Student Theses and Dissertations
The potential benefits of using population isolates in genetic mapping due to reduced genetic and environmental heterogeneity are offset by the challenges posed by these populations for traditional association methods. Population isolates often contain large amounts of direct and cryptic relatedness that confound baseline assumptions of independence among genotypes and phenotypes and require specialized approaches to account for this sample structure. We examined three such approaches for association testing: (i) scoring allele transmission to offspring within families (ii) incorporating a permutation-based association score between families into the test statistic and finally (iii) incorporation of a kinship matrix to capture the …
Haplotype-Based Association Studies: Approaches To Current Challenges, Mark A. Levenstien
Haplotype-Based Association Studies: Approaches To Current Challenges, Mark A. Levenstien
Student Theses and Dissertations
Haplotype-based association studies have greatly aided researchers in their attempts to map genes. However, current designs of haplotype-based association studies lead to several challenges from a statistical perspective. To reduce the number of variants, some researchers have employed hierarchical clustering. This thesis starts by addressing the multiple testing problem that results from applying a hierarchical clustering procedure to haplotypes and then performing a statistical test for association at each of the steps in the resulting hierarchy. Applying our method to a haplotype case-control dataset, we find a global p-value. Relative to the minimum p-value over all steps in the hierarchy, …