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.
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Showing 1 to 5 of 5 for “"rare variant association"”.
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Principled "convergence" non-coding rare variant association testing in complex disease
… are still unknown. Thus far, genome-wide association studies (GWAS) have only explained a small proportion of disease heritability, indicating that there is a large number of additional loci that contribute to complex diseases like type 2 diabetes (T2D), which is the primary case study in …
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Rare Variant Association Studies In Crohn’S Disease and Colorectal Cancer: Methods and Applications
… cancer morbidity and mortality. Genome-wide association studies using single marker approaches have identified loci responsible for these diseases, but disease susceptibility from rare variants is incompletely understood. This dissertation includes three chapters, two association studies for …
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Multiple Testing Embedded in an Aggregation Tree With Applications to Omics Data
… second part of this dissertation is motivated by rare variant association studies, where a key goal is to identify regions of rare variants, which are associated with disease. This problem is addressed via a flexible method called stochastic aggregation tree-embedded testing (SATET). SATET embeds …
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Development of computational approaches for whole-genome sequence variation and deep phenotyping
The rare disease pulmonary arterial hypertension (PAH) results in high blood pressure in the lung caused by narrowing of lung arteries. Genes causative in PAH were discovered through family studies and very often harbour rare variants. However, the genetic cause in heritable (31%) and idiopathic …
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Introducing A Novel Method For Genetic Analysis of Autism Spectrum Disorder
… I first review previous studies on genetic association analyses of autism spectrum disorder. A large number of these studies fall into two categories: Genome Wide Association Studies (GWAS) and sequencing studies. Although GWAS are able to identify multiple common risk variants associated …