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Vanderbilt University

1. Turner, Stephen Dale. Knowledge-Driven Genome-Wide Analysis of Multigenic Interactions Impacting HDL Cholesterol Level.

Degree: PhD, Human Genetics, 2010, Vanderbilt University

URL: http://hdl.handle.net/1803/15293 

Growing interest and burgeoning technology for discovering genetic mechanisms that influence disease processes have ushered in a flood of genetic association studies over the last decade, yet little heritability in highly studied complex traits has been explained by genetic variation. Non-additive gene-gene interactions, which are not often explored, are thought to be one source of this "missing" heritability. I begin this dissertation with a review of study designs and analytical methods for genetic association studies. Next, I characterize and present a series of improvements in using grammatical evolution to train neural networks for discovering gene-gene interactions in disease gene association studies. I then present an analysis of cis-epistasis - nonadditive multi-SNP interactions that influence gene expression. Next, I present a cohesive set of quality control procedures to be used for genome-wide association studies. Finally, I conclude by presenting results from a knowledge-driven gene-gene interaction analysis of HDL level in two clinical practice-based population biobanks. Advisors/Committee Members: Yu Shyr (committee member), Marylyn D. Ritchie (committee member), Jonathan Haines (committee member), Erik Boczko (committee member), Dana Crawford (Committee Chair).

Subjects/Keywords: Human genetics; bioinformatics; machine learning; neural networks; cardiovascular disease; complex disease

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Turner, S. D. (2010). Knowledge-Driven Genome-Wide Analysis of Multigenic Interactions Impacting HDL Cholesterol Level. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/15293

Chicago Manual of Style (16th Edition):

Turner, Stephen Dale. “Knowledge-Driven Genome-Wide Analysis of Multigenic Interactions Impacting HDL Cholesterol Level.” 2010. Doctoral Dissertation, Vanderbilt University. Accessed April 17, 2021. http://hdl.handle.net/1803/15293.

MLA Handbook (7th Edition):

Turner, Stephen Dale. “Knowledge-Driven Genome-Wide Analysis of Multigenic Interactions Impacting HDL Cholesterol Level.” 2010. Web. 17 Apr 2021.

Vancouver:

Turner SD. Knowledge-Driven Genome-Wide Analysis of Multigenic Interactions Impacting HDL Cholesterol Level. [Internet] [Doctoral dissertation]. Vanderbilt University; 2010. [cited 2021 Apr 17]. Available from: http://hdl.handle.net/1803/15293.

Council of Science Editors:

Turner SD. Knowledge-Driven Genome-Wide Analysis of Multigenic Interactions Impacting HDL Cholesterol Level. [Doctoral Dissertation]. Vanderbilt University; 2010. Available from: http://hdl.handle.net/1803/15293

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