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 26 for “"expression quantitative trait loci"”.
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Investigation of Adiposity Phenotypes in AA Associated With GALNT10 & Related Pathway Genes
… genomic association studies in obesity-related traits, comparison to expression quantitative trait loci (eQTL) data, and a mouse knockout model, in addition to furthering our knowledge of genes in the pathway in which GALNT10 acts. Previously, genome-wide association studies in African Americans …
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Using single-cell RNA-seq to assess the effect of common genetic variants on gene expression during development
… of DNA variants associated with complex traits and diseases, by exploiting naturally occurring genetic variation in large populations of individuals. More recently, similar approaches have been applied to RNA sequencing (RNA-seq) data to find variants associated with expression level, …
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A More Holistic Analysis of Privacy Risks in Transcriptomic Datasets
Gene expression data provides molecular insights into the functional impact of genetic variation, for example through expression quantitative trait loci (eQTL). With an improving understanding of the association between genotypes and gene expression comes a greater concern that gene expression …
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3D Chromatin Structure and Gene Regulation: Integrated Genome Structure, Transcriptomics and Epigenetics
… of the genome is essential for regulating gene expression, replication, and stability. Chromatin folding mediates enhancer–promoter communication, but bulk Hi-C data obscure single-cell variability, while sparse single-cell Hi-C limits structural resolution. This dissertation develops …
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Causal Gene Network Inference from Genetical Genomics Experiments via Structural Equation Modeling
… for genetical genomics experiments using expression Quantitative Trait Loci (eQTL) mapping and Structural Equation Modeling (SEM). Unlike Bayesian Networks, this approach is able to construct cyclic networks, while cyclic relationships are expected to be common in gene networks. …
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Uncovering novel genes causing isolated gonadotropin releasing hormone deficiency using runs of homozygosity in outbred families
… was performed. Areas of known IGD genes, Expression Quantitative Trait Loci (eQTLs) of known genes and novel regions predicted to be associated with IGD were explored. RESULTS: While there was no statistical difference between the ROH burden in cases vs. controls, there was an unexpected …
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Multi-omics Investigation into Alzheimer's Disease: Functional Mechanism and Early Detection
… from genome-wide association study (GWAS) and expression quantitative trait loci (eQTL) analysis. Results of this study confirmed the potential of integrative GWAS and eQTL analysis in estimating the transcriptomic changes when lack of tissue-specific expression data, and provided important …
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Regulation of gene expression in macrophage immune response
Gene expression quantitative trait loci (eQTL) mapping studies can provide mechanistic insights into the functions of disease-associated variants. However, many eQTLs are cell type and context specific. This is particularly relevant for immune cells, whose cellular function and behaviour can be …
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Statistical Modeling Approaches For The Inference of Cancer Mechanisms
… correlations between genetic variations and gene expression provides a better understanding of the functional significance of these variations. Such knowledge has the potential to revolutionize cancer diagnosis and treatment. This thesis describes methods developed to address two related aims. Aim …
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Inference of Gene Regulatory Networks with integration of prior knowledge
… Prior (FLAP) method. FSSEM incorporates gene expression data and genetic variants in the form of expression quantitative trait loci (eQTLs) perturbations. FLAP enhances FSSEM by integrating prior knowledge of gene-gene interactions into the initial network estimate, guiding the selection of …
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Genomic architecture of the aging hematopoietic system
… six pleiotropic variants associated with diverse traits including blood cell counts, metabolic and cardiovascular disease, and anthropometric traits. I found that pleiotropic variants are more likely to be coding mutations and are highly deleterious yet remain at relatively common allele …
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Quantitative genetics of gene expression during fruit fly development
… associated with many diseases as well as quantitative phenotypes, by exploiting naturally occurring genetic variation in large cohorts of individuals. More recently, the GWAS approach has also been applied to highthroughput RNA sequencing (RNA-seq) data in order to find loci associated …
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Elucidating the constitutional genetic basis of multiple primary tumours
… cancer predisposition genes (CPGs) or at novel loci. Analysis of WGS data for variants affecting known CPGs showed that a pathogenic or likely pathogenic (P/LP) variant was detected in around 15% of previously undiagnosed cases. Just over 1% of these were structural variants, which would …
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Understanding functional mechanisms of genetic susceptibility to mycobacterial infection
… found that the ASAP1-mediated pathway regulates expression of a large number of the immune response genes. These findings emphasize the important role of ASAP1 in mycobacterial infection and explain its involvement in TB pathogenesis. In my second project, I was involved in a large study …
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Combining population-scale single-cell transcriptomics with germline genetics to understand the biology of inflammatory bowel diseases
… analyses including differential gene expression, non-negative matrix factorisation, and heritability partitioning. The results highlighted antigen presentation pathways upregulated in epithelial cells from diseased biopsies whilst T cell, myeloid and B cell populations were enriched in …
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Novel Statistical Methods for Mediation Analysis with High-dimensional Omics Mediators
… statistical method for examining how molecular traits, such as gene or protein expression, act as intermediaries linking an exposure to a health outcome. For example, it can help explain how smoking affects disease risk through molecular changes. The rapid progress in high-throughput omics …
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Cortisol responsive gene networks in cardiovascular disease
… that genetic variants in SERPINA6 influence CBG expression in liver and cortisol delivery to extra-hepatic tissues, responsible for mediating cortisol-regulated gene expression. The Stockholm Tartu Atherosclerosis Reverse Networks Engineering Task study (STARNET) provides RNA sequencing data for …
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Genomic profiling of response to $\textit{in vivo}$ immune perturbations
… perturbation. The ability to measure immune gene expression at scale has led to the identification of transcriptomic signatures that predict clinical phenotypes such as antibody response to vaccines. It has also been recognised that both expression and phenotypic responses are traits with complex …
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Germline variants associated with alternative splicing in colonic mucosa
… patterns to predisposition to other complex traits. This study has analysed RNA-seq from 221 samples of colonic mucosa (the precise tissue of origin of CRC) from a Scottish cohort to identify variants associated with quantitative changes in the splicing patterns of genes (sQTLs). All …
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Genomic investigation of primary immunodeficiency
… disease with low CD4+ T cells and aberrant expression of PD-1 and CD127. Study of patient T cells, IVNS1ABP knockdown Jurkat cell lines, and CRISPR/Cas9-mediated IVNS1ABP knockdown in primary human T cells demonstrated that reduced IVNS1ABP leads to T cell hyperactivation. Development of …
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