dc.creator | Turner, Stephen Dale | |
dc.date.accessioned | 2020-08-23T16:21:46Z | |
dc.date.available | 2012-12-22 | |
dc.date.issued | 2010-12-21 | |
dc.identifier.uri | https://etd.library.vanderbilt.edu/etd-12162010-145118 | |
dc.identifier.uri | http://hdl.handle.net/1803/15293 | |
dc.description.abstract | 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. | |
dc.format.mimetype | application/pdf | |
dc.subject | Human genetics | |
dc.subject | bioinformatics | |
dc.subject | machine learning | |
dc.subject | neural networks | |
dc.subject | cardiovascular disease | |
dc.subject | complex disease | |
dc.title | Knowledge-Driven Genome-Wide Analysis of Multigenic Interactions Impacting HDL Cholesterol Level | |
dc.type | dissertation | |
dc.contributor.committeeMember | Yu Shyr | |
dc.contributor.committeeMember | Marylyn D. Ritchie | |
dc.contributor.committeeMember | Jonathan Haines | |
dc.contributor.committeeMember | Erik Boczko | |
dc.type.material | text | |
thesis.degree.name | PHD | |
thesis.degree.level | dissertation | |
thesis.degree.discipline | Human Genetics | |
thesis.degree.grantor | Vanderbilt University | |
local.embargo.terms | 2012-12-22 | |
local.embargo.lift | 2012-12-22 | |
dc.contributor.committeeChair | Dana Crawford | |