Global ETD Search
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Showing 1 to 2 of 2 for “"burden tests"”.
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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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Rare Genetic Variants and Cancer Susceptibility
… Cancer Association Consortium and UK Biobank. Burden tests were performed for protein-truncating and rare missense variants in over 15,000 genes, and family history information was incorporated to increase the power to detect associations. Associations between protein-truncating variants and …