Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 4 of 4 for “"burden test"”.
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Novel Statistical Methods for Multiple-variant Genetic Association Studies with Related Individuals
… lead to loss of power in genetic association tests. Also, repeated measurements of phenotype and dynamic covariates from longitudinal studies bring in more opportunities but also challenges in the discovery of disease-related genetic factors. This dissertation focuses on developing novel …
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Genetic and non-genetic determinants of drug response in type 2 diabetes
… In addition,downstream rare variant burden test and pathway analyses were performed. </p><p class="MsoNormal" style="text-align:justify;line-height:150%"><b>Results</b>: We showed robust association of metformin use with fasting glucagon likepeptide-1 (GLP-1) levels in diabetic and …
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Understanding the Aetiology of Metabolic Diseases and Related Phenotypes through Human Genetics
… I performed several studies on rare variant burden tests. I first conducted a comprehensive computational experiment to evaluate various rare variant selection strategies for gene-based burden tests. The results informed the development of the analytical pipeline and the selection of …
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Genetic basis of inherited kidney and related tumours
… increasing the diagnostic yield to 8%. Burden test analyses demonstrated excess of *CHEK2* variants in European RCC cases compared to controls (*P*=0.0019) and a trend of association with double strand homologous (DS HR) and nonhomologous repair (DS NHR) pathways. Candidate novel RCC …