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 49 for “"copy number variation"”.
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Accelerated Adaptation through Stimulated Copy Number Variation in Saccharomyces cerevisiae
Accelerated Adaptation through Stimulated Copy Number Variation in Saccharomyces cerevisiae Ryan Matthew Hull Repetitive regions of the genome, such as the centromeres, telomeres and ribosomal DNA account for a large proportion of the genetic variation between individuals. Differences in the number …
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The functional impact of copy number variation in the human genome
Copy number variation (CNV) is a class of genetic variation where large segments of the genome vary in copy number among different individuals. It has become clear in the past decade that CNV affects a significant proportion of the human genome and can play an important role in human disease. With …
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ROLE OF GENOMIC COPY NUMBER VARIATION IN ALZHEIMER'S DISEASE AND MILD COGNITIVE IMPAIRMENT
… to its earlier diagnosis and treatment. Genetic variation plays a key role in the development of AD, but not all genetic factors associated with the disease have been identified. Copy number variants (CNVs), a form of genetic variation, are DNA regions that have added genetic material …
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Comparative analysis of algorithms for identifying copy number variation in array CGH data
… analysis of algorithms for identifying copy number variation in array CGH data. Circular Binary segmentation (CBS), CGH segmentation, Price —Smith—Waterman algorithm (the three algorithms are a part of ADaCGH tool) and Cluster Along Chromosome (CLAC) which is not publicly available were …
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Investigation of Copy Number Variation in South African Patients with Congenital Heart Defects
… though heritable genetic factors including copy number variants (CNVs) have been shown to contribute to the risk of CHD in individuals of European ancestry. However, the role of rare CNVs in the development of CHD in African populations including South Africa is unknown. This study aims to …
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Investigating the heritability of resistance fueling copy number variation in glyphosate resistant Amaranthus palmeri
Gene copy number variation (CNV) can arise as a response to selection pressure from the environment. Herbicide is one selective agent targeting and promoting the evolution of resistance in agricultural weed populations. In Amaranthus palmeri, CNV of the EPSPS gene, the target of glyphosate …
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Investigation of the role of copy number variation in the susceptibility to systemic lupus erythematosus
… has a strong genetic component. Most recently, Copy Number Variations (CNVs) have been shown to be ubiquitously present in unrelated healthy subjects and contribute substantially to phenotypic variation in the human population. Furthermore, there is increasing evidence that CNVs contribute to …
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Investigation of the role of copy number variation in the susceptibility to systemic lupus erythematosus
… has a strong genetic component. Most recently, Copy Number Variations (CNVs) have been shown to be ubiquitously present in unrelated healthy subjects and contribute substantially to phenotypic variation in the human population. Furthermore, there is increasing evidence that CNVs contribute to …
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Phenotypic and transcriptomic consequences of ribosomal DNA copy number variation in Caenorhabditis elegans and Saccharomyces cerevisiae
… in one or more tandem repeat arrays, with copy number variation (CNV) commonly observed in inter- and intra-species comparisons. rDNA CNV has been primarily studied in the budding yeast Saccharomyces cerevisiae, where an environmentally sensitive copy number amplification mechanism corrects …
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Genic copy number variation associated with abiotic/biotic stress among a set of progenitors of contemporary maize germplasm
… as a model genetic organism. Although sequence variation is most commonly associated with single nucleotide polymorphisms, it is estimated that a greater portion of the genome is affected by structural variation (SV). This is a broad phenomenon that includes copy number variation (CNV), …
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The role of novel genetic variants and DNA methylation as risk factors for tendon pathology in physically active individuals
… to investigate whether novel genetic variants (copy number variation (CNV) and single nucleotide polymorphisms (SNPs)) in candidate genes were associated with Achilles tendon pathology (ATP) and to investigate whether DNA methylation status was altered in patellar tendinopathy, within the …
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THE ROLE OF RETROTRANSPOSITION AND EXOSOMAL DNA IN RADIATION-INDUCED GENOMIC INSTABILITY
… using whole-genome sequencing to identify any copy number variation by comparing exosomes excreted from sham and 2 Gy irradiated MCF7 cells. The results herein suggest that exosomes excreted from MCF7 cells following a 2 Gy X-ray dose have a different composition and DNA contents compared to …
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Integrated Genomics Of Susceptiblity To Therapy-Related Leukemia
… required a comprehensive map of genetic variation in mouse, which was not available at the outset of this thesis work. Specifically, DNA copy number variations: CNVs), defined as genomic sequences that are polymorphic in copy number and range in length from 1,000 to several million base …
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INVESTIGATION OF RESILIENCE AND ITS GENETICSTHROUGH THE USE OF LONGITUDINAL DATA
… contribution is included: (4) construction of a copy number variation map for the population studied. The characterization study demonstrated that methodological choices in lactation curve modelling significantly influence phenotypic resilience indicator values and cow rankings. The simulation …
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Application of the single cell genomics in deciphering tumor heterogeneity and its role in tumor progression and drug resistance
… and mice, but was not explained by genomic copy number variation. Cancer cells progressively adopted alternate lineage identities, computationally predicted to be mediated through a common transitional, high-plasticity cell state (HPCS). HPCS cells prospectively isolated from mouse tumors …
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Efficient search methods for high dimensional time-series
… for this problem comes from detecting copy number variation (CNVs) in genetics, using data from multiple individuals. Secondly, we present a novel approach to detect sets of most recent changepoints in panel data which aims to pool information across time-series, so that we …
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An evaluation of genomic factors and their importance in etiopathogenesis of congenital heart diseases /
… was used and 44 (17.39 percent) pathogenic copy number variations (CNVs) were determined in the group of subjects. These results show that pathogenic CNVs are frequent causative variants in the genome in the etiology of syndromic CHDs and CHDs, manifesting themselves with other developmental …
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Identification of DNA Copy Number-Dependent Transcriptional Deregulation inHepatocellular Carcinoma (HCC)
… genomic profiles analysis, in which the genomic copy numbers and gene expression profiles are analyzed by the integrative way to define the chromosomal regions with both genomic copy number variation and concomitant transcriptional deregulation, is posited to provide a promising strategy to …
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Utilising Single-Cell Technology to Investigate Gene Regulation
… functional complexity arises not merely from the number of genes, but from how genes are regulated and expressed across different cell types and contexts. Instead, increasing complexity is thought to result from a combination of molecular mechanisms, including epigenetic modifications, gene …
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