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 12 of 12 for “"Common genetic variation"”.
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Common genetic variation and spliceosome variants in rare developmental disorders
… protein- coding variants, evidence suggests that common variants also contribute to risk for rare, neurodevelopmental disorders (NDDs). These are likely affecting the penetrance of protein-coding variants as well as expressivity, posing a major challenge in the interpretation of rare variants. An …
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Genetic Characterisation of Neurodegenerative disorders
… of sporadic neurodegenerative diseases, the genetic association approach was used in the work of this thesis to identify the multiple variants of small effect that may modulate susceptibility to common, complex neurodegenerative diseases. It has been shown that the common genetic variation of …
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Proxy genotypes and phenotypes for human genetics
Genetic mapping by association is an unbiased approach to discover genes and pathways influencing disease traits and response to drugs and environmental exposures. There are two key obstacles to mapping in humans: (1) The full sequence of study subjects cannot yet be obtained; and (2) There are …
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Understanding Inflammatory Bowel Disease using High-Throughput Sequencing
For over two decades, the study of genetics has been making significant progress towards understanding the causes of common disease. Across a wide range of complex disorders there have been hundreds of associated loci identified, largely driven by common genetic variation. Now, with the advent of …
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The role of genetic variation and DNA methylation in human glucose metabolism and type 2 diabetes
… was to explore the role of DNA methylation and common genetic variation on glucose metabolism and the pathogenesis of type 2 diabetes. Reduced oxidative capacity of the mitochondria in skeletal muscle has been suggested to play a role in insulin resistance and type 2 diabetes. In studies I and …
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Hereditary and inborn etiology of pediatric cancer
… cancer remains largely elusive. In rare cases, genetic mutations and environmental exposures such as radiation are known causes. For the vast majority of childhood cancer patients, there is no known cause for their disease. With an increasing number of childhood cancer survivors, the need to …
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Genomic profiling of response to $\textit{in vivo}$ immune perturbations
… and phenotypic responses are traits with complex genetic architectures. This thesis examines the longitudinal transcriptomic response to immune perturbations, and its association with clinical response phenotypes and common genetic variation. Chapter 2 explores transcriptomic response to pandemic …
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Genomic investigation of primary immunodeficiency
… effected with PID still remain without a genetic diagnosis. In this thesis, I have investigated three novel monogenic associations with PID, and also explored the impacts of common genetic variation in PID-associated genes with common diseases. From analysis of whole-genome sequence data …
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The Measure and Meaning of Structural Similarity in the Brain
… homophily, and a heterochronic model of ontogenetically phased cortical maturation. I then review studies of the genetic and transcriptional architecture of MRI similarity in population-averaged and disorder-specific contexts, and developmental studies of normative cohorts and clinical …
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Integrating bioinformatics and physiology to describe genetic effects in complex polygenic diseases
… mellitus (T2DM) results from interaction between genetic and environmental factors. The worldwide prevalence of T2DM is increasing rapidly due to reduction in physical activity, increase in dietary intake, and the aging of the population. This thesis has focused on dissecting the genetic …
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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Most known genetic causes of severe childhood developmental disorders are rare, deleterious, protein-coding changes that cause Mendelian disorders. Children with these disorders typically show early-onset impairment in growth, learning and adaptive behaviours. Linkage and whole exome sequencing …
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Using human genomics to decipher biological mechanisms underlying reproductive ageing and fertility in women
… women with reduced reproductive lifespan. Human genetic studies have attempted to overcome this problem by identifying genetic markers associated with menopause timing and thus providing substantial insight into the biological mechanisms governing ovarian ageing. However, previous approaches have …