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 71 for “"structural variation"”.
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Understanding Genomes Through Engineered Structural Variation
… about the biology of genome engineering, structural variation, and gene regulation. I first outlined the determinants of short sequence insertion using prime editing by systematically measuring the frequency of insertion for 3,604 short sequences in four target sites of three human cell …
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Studying plasmid relatedness and evolution through structural variation
… in laboratories and hospitals clearly show that structural changes (gene gain/loss, inversions) occur at comparable or higher rates than SNPs. This presents two challenges for analysis of plasmids. First, dramatic structural changes make it hard to define evolving units for further study (species …
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Structural variation at soybean loci regulating small RNAs and seed color
… region in repetitive regions for determining structural variation since both of the current versions of the soybean reference genome (Wm82.a1 and Wm82.a2) have inversions and gaps and do not accurately represent the ii allele. Chapter 3 shows the interaction of the unlinked k1 mutation that …
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Sensitive detection of complex and repetitive structural variation with long read sequencing data
Submission original under an indefinite embargo labeled 'Open Access'. The submission was exported from vireo on 2022-04-06 without embargo terms
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Exploring the Influence of structural variation on the solution and solid-state behaviour of cyanine
… between the structures. The trimethine x-ray structural studies were less systematic but more varied. Despite many more structures being required, it appears that the prediction of packing structures may be possible from the molecular structure.<br/>In aqueous solution cyanine dyes are known …
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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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Towards a Pangenome Perspective on the Lake Malawi Cichlid Radiation
… has the limitation of ignoring larger scale structural variation that has great potential to cause alterations to phenotype. To better address this question, I adopt a pangenomic approach by constructing a multiassembly graph of the haplochromine cichlids in Lake Malawi, making use of newly …
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Separation of alkali metal cations and alkaline earth cations using ionizable crown ethers
… agents were utilized to probe the effects of structural variation within the ionizable polyether and environmental variation upon the selectivity and effÃciency in metal ion complexation and transport. Experimental techniques of pK^ determination in dioxane-water systems, solvent extraction, …
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Insights into the genomic histories of diverse human populations using whole-genome sequencing analysis.
… populations limit our knowledge of genetic variation and population history, and their inclusion is needed to ensure they benefit from future developments in genomic medicine. In this thesis, I describe extending our understanding of global genetic diversity and population history by two …
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The event structure of light verbs
… verbs across the three languages vary in their structural position and function. English light verbs take and give remain low in the structure, in VP, while the Hindi-Urdu light verb le ‘take’ occupies an intermediary (Inner) Aspect head just below the head that introduces the external argument, …
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Defining the functional response of Mycobacterium sp. infected macrophages to structural variants of Interferon gamma (IFN-y)
… by an incomplete understanding of how subtle structural variation influences its conformational organisation and stability. In biological systems, IFN-γ exists not as a single uniform molecular entity but as a structurally heterogeneous population arising from post-translational modification, …
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The genomics of adaptive colouration in Hypolimnas butterflies and the wood tiger moth, Arctia plantaginis
… the evolution of wing phenotypes, and second, structural variation often underlies such traits. Clarifying the generality of these two patterns requires the dissection of the genetic architecture of wing phenotypes in a wider variety of species. In this thesis, I explore the genetic basis of …
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Reconstructing Chromothriptic Chromosomes in Oesophageal Adenocarcinomas
… how the genome is regulated. Complex regions of structural variation between alleles in cancer genomes coupled with subclonal variants means haplotype-aware de novo assemblies are essential for contiguous cancer genome assemblies. Our method takes haplotype blocks and assigns PacBio circular …
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Modeling the flexibility of alpha helices in protein interfaces : structure based design and prediction of helix-mediated protein-protein interactions
… models that can be used to efficiently sample structural variation. This thesis identifies methods that can be used to sample an important sub-space of protein structure: alpha helices that participate in protein interfaces. Helices, the global structural properties of which can be described …
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Computational methods for the detection of somatic structural variants in cancer genomes using long-read sequencing
Accurate detection of somatic structural variants (SVs) is critical for informing the diagnosis and treatment of human cancers. In this thesis, I present SAVANA, a computational method for the analysis of somatic SVs using long-read whole genome sequencing data from tumours and matched normal …
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Empirical accuracy bounds for next-generation sequencing variant calling workflows
… of variant callers to quality scores and structural variation."
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Whole genomic structural variant calling in soybean: Analysis on 481 different soybean lines
… and found many more short variants compared to structural variants: medians 2,728,393 and 3,972 variants respectively. Additionally, we provide the user-friendly workflow script together with full-documentation for Cortex-var assembly-based variant discovery. Additionally, post variant discovery …
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Stereo-Selective Synthesis of Bis-bridged calix[6]arenes
… ion to form a complex. Calixarenes have certain structural features analogous to enzymes, which include a well-defined cavity for host-guest complex interactions, and potential for structural variation. Research conducted in the Blanda group has focused on the synthesis of new, rigid …
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