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Exploring the roles of genetic regulation in human phenotypes

  • Author(s): Freund, Malika Kumar
  • Advisor(s): Pasaniuc, Bogdan
  • et al.

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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