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 33 for “"eQTL"”.
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The effect of non-coding variants on gene transcription in human blood cell types
… context. Expression quantitative trait locus (eQTL) studies identify genetically explainable gene expression variation in a tissue and potentially cell type specific manner. I have reprocessed and aggregated eQTL datasets of seven purified blood cell types that were generated by collaborators …
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Quantitative genetics of gene expression during fruit fly development
… called expression quantitative trait loci (eQTL). Because of the large amount of data that is required for such high-resolution eQTL studies, most of them have so far been carried out in humans, where the cost of data collection could be justified by a possible future impact in human health. …
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Using single-cell RNA-seq to assess the effect of common genetic variants on gene expression during development
… called expression quantitative trait loci (eQTL). Recent advances in experimental techniques have provided an unprecedented opportunity to measure gene expression at the single cell level, and the chance to study cellular heterogeneity. This represents a remarkable advance over traditional …
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Causal Gene Network Inference from Genetical Genomics Experiments via Structural Equation Modeling
… 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. Reconstruction of gene networks provides …
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New statistical methods in bioinformatics: for the analysis of quantitative trait loci (QTL), microarrays, and eQTLs
… study discusses a new type of analysis, called eQTL analysis. This analysis brings together the methods of microarray and QTL analyses in order to detect locations on the genome that control gene expression. These controlling loci are called expression QTL, or eQTL. Locating eQTL can help …
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Combining population-scale single-cell transcriptomics with germline genetics to understand the biology of inflammatory bowel diseases
… to map expression quantitative trait loci (eQTL) - genetic variants associated with gene expression changes. I examined how these eQTL, and the genes they impact, vary across the cell types present in the terminal ileum. Then I colocalised the eQTL with GWAS to prioritise likely effector …
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Statistical Modeling Approaches For The Inference of Cancer Mechanisms
… expression quantitative trait loci (eQTL) mapping framework accounting for impure tumor samples and copy number alterations. eQTL analysis is a powerful tool for understanding the genetic basis of complex traits. However, existing methods do not account for copy number alterations in …
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Understanding the role of CD4+ T cells in common immune-mediated diseases
… expression quantitative trait locus (sc-eQTL) mapping study performed on CD4+ T cells undergoing activation. I identify over 6,000 genes regulated by an eQTL, of which approximately 2,000 show evidence of a gene-by-environment interaction, where the eQTL effect size changes as a function …
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3D Chromatin Structure and Gene Regulation: Integrated Genome Structure, Transcriptomics and Epigenetics
… Hi-C with expression quantitative trait loci (eQTL) data to identify statistically significant contacts and reconstruct ensembles of single-cell structures. These analyses reveal that spatial proximity between eQTL–eGene pairs enhances regulatory effects and that many-body interactions underpin …
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Circadian regulation and natural variation of low temperature signaling in Arabidopsis
… is defined. RILs are used to map expression QTL (eQTL) for a subset of these low-temperature associated genes. Some of the eQTL mapped for these low-temperature associated genes overlap with previously identified fitness QTL and this study offers hypotheses as to the genes underlying these eQTL.
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Common genetic variance at the SMAD9 colorectal cancer risk locus influences tumour mutational phenotype
… risk loci for investigation that also exhibited eQTL effects in normal colorectal mucosa. Comparisons of tumour mutational loads at each of these showed a significant relationship with the SMAD9 (rs493248) locus and this locus was selected for further investigations. These revealed a relative …
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Multi-omics Investigation into Alzheimer's Disease: Functional Mechanism and Early Detection
… (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 insights into tissue-specific …
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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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Investigation of Adiposity Phenotypes in AA Associated With GALNT10 & Related Pathway Genes
… 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 (AA) have identified common variants upstream of GALNT10 …
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A More Holistic Analysis of Privacy Risks in Transcriptomic Datasets
… 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 profiles could be matched to genotype profiles of the same individuals in another dataset, known as a …
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Dissecting Drivers of Basal Immunity and Acute Responses to Viral Infection
… as 38 were expression quantitative trait loci (eQTL) in 26 genes (25 cytokines and 1 transcription factor). Importantly, variation in the expression of immune transcription factors and effector molecules coupled with variation in the differentiation of leukocyte subsets may lead to differences …
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GENOMIC AND MICROBIOME ANALYSIS TO IMPROVE FILLET YIELD AND QUALITY TRAITS IN RAINBOW TROUT
… integrated expression quantitative trait loci (eQTL) mapping to connect genetic variants with gene expression and phenotypic outcomes. A total of 6,275 cis-eQTLs were identified near promoter regions influencing gene expression. Notable candidate genes included GABRR1-like, AZIN1, and ATP6V1 for …
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Inferring Transcriptional and Post-Transcriptional Network Structure by Exploiting Natural Sequence Variation
… by first mapping expression quantitative loci (eQTLs) for individual genes, and then looking for so-called “eQTLs hotspots”. Our method avoids the first step by integrating information across all genes, leading to a more elegant method that has increased statistical power. For yeast, we …
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Uncovering novel genes causing isolated gonadotropin releasing hormone deficiency using runs of homozygosity in outbred families
… 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 trend towards a greater burden in the …
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Primary sclerosing cholangitis: from genetic risk to disease biology
… i.e. are expression quantitative trait loci (eQTLs). Colocalisation assesses the evidence that a single shared causal variant is responsible for driving PSC risk and gene expression via an eQTL. In order to assign dysregulated genes to PSC risk loci, I perform colocalisation with eQTLs mapped …
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