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 2372 for “"variant"”.
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Variant Definitions: Essays and Ruminations
What follows are a collection of personal essays that focus on close examinations of shifting meaning. Many essays are intensely focused on aesthetics, from the aesthetic elegance of idealized love, through art, to what personal meaning for which people live. Aestheticism seems an ideal that is to …
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Variant Definitions: Essays and Ruminations
What follows are a collection of personal essays that focus on close examinations of shifting meaning. Many essays are intensely focused on aesthetics, from the aesthetic elegance of idealized love, through art, to what personal meaning for which people live. Aestheticism seems an ideal that is to …
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Space-variant incoherent optical processing using color
Incoherent optical processing techniques offer superior noise immunity, among other benefits, over coherent optical processing techniques. However, the complex amplitude linearity exhibited by coherent optical systems that provides a natural means for performing operations on complex functions, is …
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Variant Detection Using Next Generation Sequencing Data
Genetic variants, including single nucleotide polymorphisms (SNPs) and genomic structural variations (SVs), not only contribute to human diversity, but also are important to human health because some of them are proved to trigger diseases such as cancer, obesity and diabetes. With recent …
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Hybrid modelling of time-variant heterogeneous objects.
… set of tools allowing these to model time-variant heterogeneous objects. We also present a new Function Representation (FRep) API, which is used for the integration of FReps into complex time-variant hybrid models. This approach allows us to create a practical multilevel modelling system …
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Hardware acceleration of the SAMtools variant caller
… implementation of the SAMtools variant caller on an FPGA. It also includes a performance analysis of the algorithm and a proposed change to its software architecture to improve performance. SAMtools is normally invoked as a two-step command, where the results of samtools mpileup …
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Algorithms for genomic variant identification and interpretation
Submission published under a 24 month embargo labeled 'U of I Access', the embargo will last until 2025-05-01
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Variant configuration and management : challenges and opportunities
… the complexity of configuring and managing variants in Simulink, a model-based design tool that is used in different industries such as automotive, aerospace, and healthcare; and to simplify it by analyzing its capabilities and proposing different solutions using different modeling, workflow …
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Optimizing analysis pipelines for improved variant discovery
… genomic features such as indels, Copy Number Variants (CNVs), or microsatellite repeats. Here is the development of accuracy measurements in read alignment and variation calls, allowing the optimization of sequencing pipelines at all stages. The underlying hypothesis, then, is that different …
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Optimizing Product Variant Placement to Satisfy Market Demand
… use product families in order to offer product variants that appeal to different market segments while minimizing costs. Because the market demand is generally not uniform for all possible product variants, during the design phase a decision must be made as to which variants will be offered and …
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Response Surface Method for Time-Variant Reliability Analysis
An efficient, approximate method for computing the structural reliability of uncertain systems subjected to time-varying loads is presented in this study. The method uses response surface methodology and the fast integration scheme developed by Wen and Chen (1987). The mean and coefficient of …
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Computational methods for genomic variant calling and analysis
… markers for association with phenotypic traits. Variant calling refers to the process of detecting genetic polymorphisms based on analysis of genome sequence data output by NGS technology. The projects described here investigate these analysis methods. Chapter One reviews variant calling and its …
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Regulation and function of histone variant H2BE in neurons
… mechanisms, including exchange with histone variants. While variants of H2A and H3 have well defined roles in chromatin regulation, widely expressed variants of H2B remain elusive. Further, while recent findings link histone variants to neurological disorders, few are well-studied in the …
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Extracellular matrix gene sequence variant analyses and Achilles tendinopathy
The primary aim of this thesis was to identify additional genetic elements predisposing individuals to risk of AT using a candidate gene, case-control genetic association approach, and to propose the biological mechanisms underlying this genetic risk. Candidate genes (COMP, THBS2, COL27A1, TNC, …
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Whole genome regulatory variant evaluation for transcription factor binding
… (GWAS) have identified thousands of genetic variants that are associated with disease and complex traits. Many of these variants reside in the non-coding region of the genome, and affect gene expression and downstream cellular phenotype by disrupting the regulatory machinery of the cell. For …
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Computational Tools and Analyses for Improved Inference of Variant Effects
… With over 50% of clinically interpreted missense variants classified as “variants of uncertain significance” (VUSes), multiple approaches are needed to improve variant interpretation. Multiplexed assays of variant effect (MAVEs) can experimentally test nearly all possible missense variants in …
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Systematically and proactively testing variant effects for AIRE and SOD1
… unable to 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 …
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