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 3049 for “"Mutation"”.
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Germline mutation in rare disease
Germline mutation is the ultimate source of evolutionary change and disease-causing variants. Understanding the rates and patterns of human mutation can help us learn about their molecular origins, uncover our evolutionary history and improve our ability to identify the genetic causes of human …
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Mutation analysis of dynamically typed programs
… testing compared to statically typed languages.Mutation analysis (or mutation testing) has been shown to be effective in testing statically (or strongly) typed programs. In statically typed programs, the type information is essential to ensure only type-correct mutants are generated. Mutation …
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An Analysis of FSM Mutation Operators
Mutation analysis is extensively used for the comparison of state-based testing methods that work from a finite state machine (FSM); In this thesis, we report on results from an experiment during which we compared different mutation operators used to generate FSM mutants. We randomly generated …
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Exploring design decisions for mutation testing
… necessarily have a high bug-finding capability. Mutation testing is widely used in research to evaluate the quality of test suites, and it is often considered the most powerful approach for this purpose. Mutation testing proceeds in two steps. The first step is mutant generation. A mutant is a …
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Germline Mutation Detection In Next Generation Sequencing Data and Tp53 Mutation Carrier Probability Estimation For Li-Fraumeni Syndrome
… transmission information with <em>de novo</em> mutation and sequencing data to improve the variant calling accuracy. We investigated the factors impacting the improvement of family-based variant calling in simulation data and validated it in real sequencing data. In both simulation and real …
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MuAlloy : an automated mutation system for alloy
Mutation is a powerful technique that researchers have studied for several decades in the context of imperative code. For example, mutation testing is commonly considered a '"gold standard"' for test suite quality. Mutation in the context of declarative languages is a less studied problem. This …
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Mutation of SLC7A14 Causes Syndromic Hearing Loss
… analysis has also implicated novel mutations in hair cell genes. This study investigated Slc7a14, which is upregulated in adult mouse inner hair cells (IHCs) compared to outer hair cells (OHCs). Mutations in this gene are associated with autosomal recessive retinitis pigmentosa (RP) …
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Characterization of PRD-1 Mutation in Neurospora crassa
… FLO. This project aims to characterize the prd-1 mutation. This involved mapping the mutation using PCR analyses based on single nucleotide polymorphism (SNP) markers. After determining a minimal interval, candidate genes were sequenced, and knockout mutants were screened in this interval for …
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Green tea antioxidants inhibition of oxidation and mutation
… capable of preventing oxidative based damage (mutations). It can be deduced that there are multiple levels of antioxidative protection. First, antioxidants can destroy the pieces of peroxynitrite (·O2 and ·NO), protect from peroxynitrite itself, or protect from the damage caused …
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Initiating mutations and chemoprevention in BRCA1 mutation carriers
BRCA1 mutation carriers have a significant lifetime risk of developing breast cancer. Currently, these women are offered risk-reducing bilateral mastectomies, which have significant physical risks and psychosexual implications, or chemoprevention strategies that have little evidence to support …
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Human Mutation/substitution Rate: Variability, Modeling And Applications
Mutation generates genetic variation, and in turn selection purges deleterious variants from the population. Understanding both is critical for discovering causal genes and variants behind diseases or making inferences about evolutionary processes. Human mutation rate varies significantly across …
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Dynamic Mutation Rates and Extinction in Sexual Organisms
I analyzed the dynamics of the mutation rate in both finite and infinite randomly-mating populations. Germ-line mutator alleles, alleles that increase the genomic mutation rate, frequently occur when mutations alter the structure or regulation of genes involved in DNA repair, a fraction of the …
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Effect of the Pdgfbʳᵉᵗ mutation on cardiovascular homeostasis
… Finally, I examined the effects of the pdgfbret mutation on the osteogenic potential of MSCs derived from large coronary vessels and various vascularised tissues including the kidney, the skeletal muscle, and the heart in vitro. Quantification of osteogenic potential saw an increase in calcium …
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Somatic Mutation in Cancer and Healthy Human Tissue
Somatic mutation is a natural process in healthy human tissues but has significant implications in a range of disorders and diseases with cancer being the most prominent example. In the last decade, genomics research generated big data resources that contributed tremendously to our understanding …
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Xenobiotic metabolism and mutation in diploid human lymphoblasts
Thesis: Ph. D., Massachusetts Institute of Technology, Department of Nutrition and Food Science, 1982
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An assessment of the mutation rate of human microsatellites
Örtungl samanstanda af 2-6 kirna endurteknum DNA röðum og eru með algengustu breytileikunum í erfðamengi mannsins. Skilningur á stökkbreytingar-mynstrum örtungla getur gefið okkur miklar upplýsingar um þróun mannsins og spilar því stórt hlutverk í stofnerfðafræði. Í þessari rannsókn reiknuðum við …
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Design of empirically-grounded mutation operators for terraform IaC
… aplicação da Terramutate em um projeto obteve um mutation score de 25%, demonstrando sua eficácia na identificação de lacunas de cobertura específicas na suíte de testes. As contribuições são: (1) um catálogo de operadores de mutação para o Terraform, (2) um pipeline para mineração de padrões de …
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