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Exploring the roles of genetic regulation in human phenotypes


Human phenotypes are influenced to varying extents by inherited genetic variation, although specific mechanisms through which this variation affects the phenotypes are not completely understood. In this dissertation I explore different modes of genetic regulation in the context of human complex traits and rare disorders. First, I examine the degree of shared genetic basis between complex traits and rare monogenic disorders across a wide range of phenotypes. Second, I explore the regulatory landscape of ovarian surface epithelial cells to identify putative pathways involved in the development of epithelial ovarian cancer. This work provides a foray into understanding the different ways that genetic variation can drive downstream phenotypes through direct and epigenetic regulation of target genes.

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