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 9 of 9 for “"Disease-associated genes."”.
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Identification of Functional Variants in Alzheimer's Disease-Associated Genes
<p>Alzheimer's disease (AD) is the most common form of dementia affecting the health of more than 5 million Americans in 2013. Understanding how genetic variants contribute to AD is important to develop effective therapeutics for delaying and eventually curing the disease. Recent sequencing studies …
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Systematically and proactively testing variant effects for AIRE and SOD1
… determine the pathogenicity of rare variants in disease-associated genes. Under current guidelines, one of the strongest forms of evidence for variant annotation comes from (often cell-based) functional assays of variant impacts. One-at-a-time variant functional assays are the current standard, …
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Decoding CD4+ T cell activation by multi-modal phenotyping
… implicated in the biology of immune-mediated diseases, yet the molecular and functional mechanisms governing this process remain incompletely understood. With the explosion of profiling and functional genomic methods in the last decade, it is now feasible to interrogate the more intricate …
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A novel computational method for predicting tissue-specific disease-associated signaling pathways in human utilizing Caenorhabditis elegans reference data.
… uncoordinated cellular behaviors will cause diseases. To study mechanism of signal transduction, diverse approaches have been applied, including traditional experimental and computational methods. Compared to traditional experimental approaches, computational methods are better in analyzing …
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Development of Graphical Models and Statistical Physics Motivated Approaches to Genomic Investigations
<p>Identifying genes involved in disease pathology has been a goal of genomic research since the early days of the field. However, as technology improves and the body of research grows, we are faced with more questions than answers. Among these is the pressing matter of our incomplete understanding …
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Defining the genetic and molecular pathways underlying motor neuron degenerative diseases
Motor neuron degenerative diseases (MNDs) are a large group of genetically and clinically heterogeneous life-limiting disorders. MNDs are characterised by the progressive degeneration of upper and/or lower motor neurons. Unfortunately, there are currently no universal biomarker assays or …
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Human intestinal cells across space and time
… homeostasis, and in rare and complex diseases. Chapter 1 introduces the advances in single-cell genomic approaches within the last decade and contrasts them with previous technologies used for cataloguing cells. Following an overview of single-cell technologies, the intestinal spatial …
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Understanding the Aetiology of Metabolic Diseases and Related Phenotypes through Human Genetics
… contribute to the phenotypic variations and disease susceptibility in the population. Whole-exome sequencing (WES) is a pivotal approach for uncovering gene-disease associations by analysing rare variants that can lead to significant changes in protein function, thereby establishing clear …
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Cellular Kaleidoscope: Unveiling Tissue Microenvironment in Health and Disease
… patterns within a tissue can indicate a disease manifestation. Single-cell RNA sequencing has revolutionised our understanding of gene expression at the single-cell level, elucidating tissue composition and cell type-specific expression patterns and uncovering rare cell types. However, …