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 20 for “"Variant Analysis"”.
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Ambient vibration testing of concrete dams
… (UPC), principal component (PC) and canonical variant analysis (CVA)) have been applied to data from ambient vibration testing of two concrete dams namely; Roode Elsberg and Kouga dams.
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Using proxy markers from routine diagnostic PCR testing to assess the disease severity of new SARS-CoV-2 variants
Background With the emergence of new SARS-CoV-2 variants, understanding the clinical implications of these variants in our South African setting is critical. The Delta variant (B.1.617.2) has been associated with more severe disease, but most of this data is from high income countries. And while …
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Transcriptome analysis of the hypothalamic-pituitary-adrenal axis in the experimentally domesticated fox
… of foxes from the tame and aggressive lines, and variant analysis was performed on RNA reads from hypothalamus, anterior pituitary, and adrenal tissues from the same foxes. Pituitary analysis revealed expression differences in genes related to exocytosis and cellular signaling; adrenals analysis …
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Evaluation of TP53 and IGHV clinical molecular prognostic testing for patients with Chronic Lymphocytic Leukaemia at Tygerberg Hospital
… factors. Among these, genomic DNA sequence variants in the tumour suppressor gene p53 (TP53) and mutational status of the immunoglobulin heavy chain variable region (IGHV) gene have emerged as critical molecular prognostic biomarkers with significant therapeutic implications for risk …
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Construction and analysis of the pangenome of Cucurbita moschata to uncover variants associated with virus resistance
… using a pangenome-assisted bulk segregant analysis (BSAseq) approach. To achieve this, a pangenome of C. moschata was first constructed using an iterative mapping and assembly strategy with resequencing data from 18 genetically diverse breeding lines from the Starke Ayres breeding program …
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An integrative bioinformatics approach to characterize molecular landscapes and clinical outcomes in acute leukemias
… gene expression profiling, fusion detection, variant analysis, and RNA-derived karyotype inference in a reproducible workflow. A rule-based algorithm integrates these evidence layers to generate transparent subtype assignments. The pipeline shows that complex B-ALL subtypes can be inferred …
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Genetic studies of cardiometabolic traits
… the discovery of thousands of trait-associated variants. Nonetheless, much is still to be understood regarding the genetic architecture of these traits, as well as their underlying biology. This thesis aims to further explore the genetic architecture of cardiometabolic traits by using …
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Clinical Utility and Impact of Targeted Nucleic Acid Sequencing in Myeloid Malignancies and Precursor Lesions
… (Thermo Fisher). We further compare commercial variant analysis workflows accompanying the panel with a custom analysis pipeline, demonstrating that supplementing commercial filters with manual variant interpretation improves variant detection. We also performed prospective sequencing in …
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Design for Serviceability - A probabilistic approach
… in the surrounding environment and the time-variant mechanical loading. Based on the results of the model, possibilities of simplified modelling are investigated to predict long-term deflections of timber structures. The reliability of serviceability limit states in current design codes is …
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Somatic Mutation in Cancer and Healthy Human Tissue
… technique, is extended to single nucleotide variant analysis. When applied to cortical neurons, it suggested a substantial level of technical artefacts in previously published mutational spectra. Thus, this multiomic approach offers an alternative method in a field that is still under active …
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Investigating the role of demography and selection in genome scale patterns of common and rare variant diversity in humans
… picture of the patterns of functional and rare variants worldwide high coverage WGS data from 483 individuals (including 379 novel genomes) were analysed. Ingenuity Variant Analysis and the Ensembl Variant Effect Predictor were applied to a subset of these genomes (n = 382) to create a …
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Development of computational approaches for whole-genome sequence variation and deep phenotyping
… family studies and very often harbour rare variants. However, the genetic cause in heritable (31%) and idiopathic (79%) PAH cases is not yet known but are speculated to be caused by rare variants. Advances in high-throughput sequencing (HTS) technologies made it possible to detect variants …
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Bone morphogenetic proteins 9 & 10 in pulmonary arterial hypertension
… with PAH with genome-wide significance in a rare-variant analysis. Most of the identified mutations were missense. To validate their effect in vitro, I compared a selection of those predicted to be pathogenic in silico to those predicted to be benign. Pathogenic variants were poorly secreted due …
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Pengaruh kombinasi limbah cair tahu dan kompos sampah organik rumah tangga pada pertumbuhan dan hasil panen kailan (Brassica oleracea Var. Acephala)
… then was followed by Duncan test level of 5%. Variant analysis result (ANAVA) showed that the treatment of tofu liquid waste of 500 ml / 5 kg of soil can increase plant height, leaf area, crop yields. Treatment of household organic waste compost of 675 gr / plant given best results on plant …
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Common variants in antibody deficiencies
… aetiology is largely conducted within a rare-variant, monogenic paradigm. However, most cases of the two most common IEIs, selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID), have no known Mendelian origin. In this work I investigate the common-variant architec- ture …
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COVID-19 Variant Analyzer through Genomic Sequences and Jaccard Similarities
… to track the emergence and spread of SARS-CoV-2 variants. This study developed a novel computational framework to enhance variant detection by leveraging a database-driven approach and genomic sequence analysis. The framework utilizes MySQL database architecture where each variant is stored in …
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Next Generation Sequencing-Based Genotyping of Human Blood Groups: FY, JK and ABO Genes
… derived from the human genome (hg19) to analyse variants. Analysis was accomplished by software packages, such as Ion Torrent SuiteTM plugins. Sanger sequencing of cDNA and cDNA clones was used to confirm findings in the JK gene. The sequencing data had a coverage depth of more than 5000x for FY, …
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Genomic Drivers of Cutaneous Squamous Cell Carcinoma Development
… genomic drivers of cuSCC by cross-species analysis. RNA-Seq identified 349 transcripts that were differentially expressed across normal skin (NS), AK, and cuSCC. mRNA profiles primarily distinguished NS from other samples, whereas microRNA profiles could segregate the three groups. Using …
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Genetic and molecular factors regulating growth and morphology in Senegalese sole (Solea senegalensis)
… its genetic estimates. Principal component analysis identified four symmetric and four asymmetric components that affected main body regions (head, body, and caudal fin) and were modulated by sex, the evaluation batch, and amoeba lesions. Symmetric components, that explained 68.8% of total …
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Dissecting the genetic bases of severe malaria resistance using genome-wide and post genomewide study approaches
… However, beyond identifying association variants, conventional GWAS approaches can't inform the underpinning biological functions. To bridge this gap, we applied various contemporary statistical genetic analytic approaches to malaria GWAS datasets of diverse malaria endemic populations. …