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dc.contributor.advisorGibson, Greg
dc.contributor.authorZhao, Jing
dc.date.accessioned2015-09-21T14:26:08Z
dc.date.available2015-09-21T14:26:08Z
dc.date.created2015-08
dc.date.issued2015-07-01
dc.date.submittedAugust 2015
dc.identifier.urihttp://hdl.handle.net/1853/53923
dc.description.abstractThis dissertation aims at investigating the association between genotypes and phenotypes in human. Both common and rare regulatory variants have been studied. The phenotypes include disease risk, clinical traits and gene expression levels. This dissertation describes three different types of association study. The first study investigated the relationship between common variants and three sub-clinical traits as well as three complex diseases in the Center for Health Discovery and Well Being study (CHDWB). The second study is GWAS analysis of TNF-α and BMI/CRP conducted as a contribution to meta-GWAS analyses of these traits with investigators at the University of Groningen in the Netherlands, and the 1000 Genomes Consortium. The third study was the most original contribution of my thesis as it assessed the association between rare regulatory variants in promoter regions and gene expression levels. The results clearly show an enrichment of rare variants at both extremes of gene expression. This dissertation provides insight into how common and rare variants associate with broadly-defined quantitative phenotypes. The demonstration that rare regulatory variants make a substantial contribution to gene expression variation has important implications for personalized medicine as it implies that de novo and other rare alleles need to be considered as candidate effectors of rare disease risk.
dc.format.mimetypeapplication/pdf
dc.language.isoen_US
dc.publisherGeorgia Institute of Technology
dc.subjectRare variants
dc.subjectGene expression
dc.subjectCommon variants
dc.subjectDisease risk
dc.subjectGWAS
dc.titleRare and common genetic variant associations with quantitative human phenotypes
dc.typeDissertation
dc.description.degreePh.D.
dc.contributor.departmentBiology
thesis.degree.levelDoctoral
dc.contributor.committeeMemberLee, Eva
dc.contributor.committeeMemberMcGrath, Patrick
dc.contributor.committeeMemberLachance, Joseph
dc.contributor.committeeMemberVannberg, Fredrik
dc.date.updated2015-09-21T14:26:08Z


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