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.
Results
Showing 1 to 20 of 36 for “"genomic variation"”.
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Alu retrotransposition-mediated genomic variation within the primate order
… elements are responsible for introducing genomic diversity on an intra- and inter- species level that is useful in studies of forensic identity, population genetics, and evolutionary biology. In a computational survey of the human sex chromosomes, 344 recently integrated Alu elements were …
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Functional Analysis of Genomic Variation and Impact on Molecular and Higher Order Phenotypes
… to C57BL/6J, the reference strain for all mouse genomics and the mother of the BXD family. We generated the most detailed picture of molecular variation between the two mouse strains to date and identified 5.4 million sequence polymorphisms, including, 4.46 million single nucleotide polymorphisms …
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Assessing genomic variation in the hopbush, Dodonaea viscosa, to investigate micro-evolution and adaptation
In this thesis I use a range of genomic tools in order to investigate aspects of the evolutionary history of the hopbush, Dodonaea viscosa (L.) Jacq. (hopbush). Understanding the past evolutionary processes that have led to the distribution and adaptation of contemporary populations can help to …
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Characterization of Genomic Variation Related to Hair and Skin Phenotypes in the Khoesan Speakers of Southern Africa
… to their local environment, we analyzed genomic variations of Khoesan individuals with scans of natural selection, and identified variants that may be targets of selection in the Keratin (KRT) gene family. We examined a potential regulatory variant in KRT78, rs7307165, and conducted a …
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Next-generation sequencing and genome analysis in dimorphic fungi and human: using genomic variation to recognize and understand disease
… a common focus on bioinformatics, comparative genomics of fungal genomes and clinical genomics of human chronic disease. We primarily focused on using genomic data of dimorphic fungal pathogens in order to obtain a better perspective and understanding of how commonly used assembly, annotation …
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Using Genome-wide Approaches to Characterize the Relationship Between Genomic Variation and Disease: A Case Study in Oligodendroglioma and Staphylococcus arueus
<p>Genetic variation is a natural occurrence in the genome that contributes to the phenotypic differences observed between individuals as well as the phenotypic outcomes of various diseases, including infectious disease and cancer. Single nucleotide polymorphisms (SNPs) have been identified as …
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Mitochondrial Contributions to Schizophrenia Symptom Severity: A GWAS Approach in a South African Population
… investigated the contribution of mitochondrial genomic variation and mitonuclear crosstalk to clinical symptom severity in a South African First Episode Schizophrenia (FES) cohort (N=103). Utilizing genome-wide association data, the study employed General Linear Models to assess mitochondrial …
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Genome Variation Across Cancers Scales With Tissue Stiffness--An Invasion-Mutation Mechanism
… stress, leading to DNA damage and ultimately genomic variation. Consistent with this hypothesis, we show that migration of diverse cancer cell lines through constricting pores causes excess DNA damage as well as a transient delay in cell cycle progression. We present evidence that the observed …
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Genomic approaches to understand the pathogenesis of the acute repiratory distress syndrome
… to address its pathophysiology using different genomic approaches. We have performed a genome-wide association study in European patients with sepsis, revealing a novel gene associated with ARDS susceptibility. Additionally, we have sequenced the bacterial DNA extracted from lung aspirates from …
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Parallel and Nonparallel Patterns of Genetic Co-Differentiation: Evidence for Host Associated Differentiation Among Trophic Levels of the Oak Gall Wasp System
… southern USA. Both HAD and geography structure genomic variation among host associated populations of B. treatae. The generalist inquiline parasitoid, Synergus sp. (Hymenoptera: Cynipidae) develops within B. treatae galls. Herein, we test the hypothesis of co-genetic divergence between the …
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Molecular and biological characterization of novel isolates of Plutella xylostella granulovirus found in Kenya
The biological activity and genomic variation of five Kenyan, three Asian and two sublethal isolates of Plutella xylostella granulovirus (PlxyGV) were determined and compared in P. xylostella larvae reared on artificial diet. Optimal production of PlxyGV occlusion bodies (occluded virus, OB) was …
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Exploring the TE landscape of elephant and CR1 accumulation, evolution and effects of selection in the class Chondrichthyes
… In some cause, TEs have been associated with genomic variation, alteration of gene expression and regulatory sequences. With the birth of next-generation sequencing, TEs have been investigated more toughly, allowing us to further understand the part TEs play in the evolution of vertebrate …
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Evolution of Gene Regulation in Papio Baboons
… dissertation draws on population and functional genomic variation between baboon species and within an admixed wild baboon population to address two themes: (i) how is gene regulatory divergence related to genetic divergence? and (ii) to what extent has natural selection shaped regulatory …
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Host and pathogen genetics associated with pneumococcal meningitis
… rapid antibiotic treatment. The contribution of variation in host and pathogen genetics to pneumococcal meningitis is unknown. In this thesis I develop and apply statistical genetics techniques to identify genomic variation associated with the various stages of pneumococcal meningitis, including …
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Genomic Analysis And Engineering Of Chinese Hamster Ovary Cells For Improved Therapeutic Protein Production
… sites in complex cell lines. Next, to examine genomic instability, parental cells were compared with high and low producing subclones, leading to identification of genomic regions vulnerable to copy gain/loss. A large-scale analysis across many CHO cell lines was further performed to look for …
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A tale of two clades: genome evolution of oomycetes and fungi.
… Taking advantage of the abundance of genomics data available for all major fungal phyla, the third study reconstructs the evolutionary history of 84 fungal species using seven different phylogenomic techniques and critically evaluates each technique for accuracy, speed and other …
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Defining cell state regulators in cancers using single-cell analysis and CRISPR-Cas9 screening
… on clinical outcomes are being realised. Whilst genomic variation has been extremely useful for cancer stratification and development of targeted therapies, they do not always underpin variable therapeutic responses, especially those that display higher levels of plasticity. Development of …
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Genomic adaptation to a century of environmental change in zooplankton from the Canadian Shield
… Shield and its impacts on Daphnia pulicaria genomics across time and space. Chapter 1 provides an overview of key concepts in limnology and paleoecology, presents the commonly accepted timeline of Bythotrephes invasion of North America, and reviews current knowledge about the genomics and …
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Graphical pangenomics
… and to save costs we often analyze new genomic data in the context of a reference genome. This approach distorts our image of the inferred genome, an effect which we describe as reference bias. To mitigate reference bias, I repurpose graphical models previously used in genome assembly …
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