Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 36 for “"Genetic association studies"”.
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Bayesian Model Uncertainty and Prior Choice with Applications to Genetic Association Studies
… of motivation; the biological application of genetic association studies involving single nucleotide polymorphisms. While the most common approach to this problem has been to apply a marginal test to all genetic markers, we employ analytical strategies that improve upon these marginal methods …
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Novel Statistical Methods for Multiple-variant Genetic Association Studies with Related Individuals
Genetic association studies usually include related individuals. Meanwhile, high-throughput sequencing technologies produce data of multiple genetic variants. Due to linkage disequilibrium (LD) and familial relatedness, the genotype data from such studies often carries complex correlations. …
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Genetic factors associated with neuropathic pain
… NP is multifactorial, with evidence of both genetic and environmental factors contributing to its development. Although the genetic contribution to NP susceptibility has been recognised in recent decades, the underlying mechanism remains elusive. The aim of this research was to identify …
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An HMM-based boundary-flexible model of human haplotype variation
… variation holds the promise for more powerful genetic association studies. The segmentation of the human genome into blocks of limited haplotype diversity has been successfully employed by models that describe common variation. Some computational models of haplotype variation are flawed, …
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Resistance to hepatitis C virus : potential genetic and immunological determinants
Studies of highly exposed individuals who remain seronegative (HESN) for HIV infection led to the discovery that homozygosity for the d32 mutation in the CCR5 chemokine receptor gene abrogated viral entry into target cells, and was associated with resistance to infection. In addition, evidence for …
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The role of novel genetic variants and DNA methylation as risk factors for tendon pathology in physically active individuals
… of this thesis were to investigate whether novel genetic variants (copy number variation (CNV) and single nucleotide polymorphisms (SNPs)) in candidate genes were associated with Achilles tendon pathology (ATP) and to investigate whether DNA methylation status was altered in patellar tendinopathy, …
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Understanding host factors controlling intracellular killing of Mycobacterium tuberculosis
… the M1V, which was previously reported to be genetically associated with protection from pulmonary Tuberculosis. I found that the M1V results in altered signal peptide usage leading to altered trafficking of receptors to early rather than late endosomal compartments. Consequently, TLR8 …
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Familial adenomatous polyposis: a genotype - phenotype correlation
This document only includes an excerpt of the corresponding thesis or dissertation. To request a digital scan of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).
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Whole genome sequencing approach to identifying genetic risk factors underlying anterior cruciate ligament injuries in a twin family study
… loci have been identified through case-control genetic association studies, which are limited by a candidate gene approach and insufficient statistical power. The primary aim of this thesis was to use a whole genome sequencing (WGS) approach within the context of a twin family study to identify …
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Role of the IKKβ/NF-κB pathway in alcoholism
… acute and chronic effects of alcohol exposure. Genetic association studies in humans, gene expression microarray studies in postmortem brains of alcoholics, transcriptome meta-analysis in rodents, and drinking models in mice support the role of neuroimmune signaling in alcohol abuse disorder. …
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Next Generation Sequencing and Genome-Wide Association Studies to Identify Mitochondrial Genomic Features Associated with Diabetic Kidney Disease
… associated with DKD. Furthermore, these genetic and functional data prompted further investigation of single nucleotide polymorphisms (SNPs) affecting mitochondrial function for association with DKD.<br/><br/>Targeted genome wide association analyses focusing on mitochondrial DNA (mtDNA) …
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The Molecular Mechanism Of The Gwas Association Of The Slc22a1 Locus With Metabolic Traits
… has been largely unexplored. Genome-wide association studies (GWASs) have revealed novel associations at the SLC22A1 locus for plasma acylcarnitine and low-density lipoprotein (LDL) cholesterol levels, suggesting previously unknown roles of SLC22A1 in the regulation of acylcarnitine and …
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Exploring nonlinear regression methods, with application to association studies
… how best to search the resulting model space. Genetic Association Studies comprise an area that stands to gain greatly from the development of more sophisticated regression methods. While these studies’ ability to interrogate the genome has advanced rapidly over recent years, it is thought that …
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The role of genetic variation in VKORC1 and GGCX on warfarin response in a South African population
… the international normalized ratio (INR). Many genetic-association studies have reported on European and Asian populations which has led to the designing of specific algorithms that are now being used to assist in warfarin dosing. However, very few or no studies have looked at the …
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Bone health in elite ballet dancers: a multidisciplinary approach
… to general population; however, some published studies also highlight the positive effects of dance training on bone metabolism. Given the existing controversy, the aim of the current work was a) to investigate bone health status of professional ballet dancers and vocational dance students, and …
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Genetic epidemiology of markers of genomic ageing
… loss, have been linked to cancer. The genetic architecture of these markers is not well understood and studies investigating associations with common age-related cardiometabolic conditions have been limited in their design, analytical methods, power and genetic instruments used. Only a …
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