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 166 for “"Human genetics"”.
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Proxy genotypes and phenotypes for human genetics
… There are two key obstacles to mapping in humans: (1) The full sequence of study subjects cannot yet be obtained; and (2) There are substantial limits to the phenotypes that can be safely elicited or measured. Geneticists thus rely on practically measurable sets of genotypes to proxy for …
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Human Genetics, Psychotropic Drugs, and Acts of Violence
… <p>The guidelines set by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Dutch Pharmacogenetics Working Group (DPWG) do not apply in cases of polypharmacy or when there is more than one-drug-one gene interaction involved. An easy-to-use protocol is described that could be …
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Unveiling Global Roles of G-Quadruplexes and G4-22 In Human Genetics
… about the most common G4 repeat in the human genome, named here as G4-22, and how it links to the evolution of mammals and their biology. In this dissertation, we try to assess the expression patterns of genes containing G4 and attempt to find a biological role for G4-22.<strong> …
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Understanding the Aetiology of Metabolic Diseases and Related Phenotypes through Human Genetics
A key objective in human genetics is to elucidate how inherited genetic variations contribute to the phenotypic variations and disease susceptibility in the population. Whole-exome sequencing (WES) is a pivotal approach for uncovering gene-disease associations by analysing rare variants that can …
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Applying ancestry tracts to human genetics: disentangling admixture history and characterizing gene conversion
… of inference problems in population and medical genetics. Here I propose new methods for studying admixture demography and inferring non-crossover gene-conversion from admixture tracts. First, I present PAPI (Parental Admixture Proportion Inference), a Bayesian tool for inferring admixture …
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Blood groups and the rise of human genetics in mid-twentieth century Britain
… groups were made into pre-eminent objects of human genetic research and powerful markers for producing human biological difference. By tracing the ways in which three British laboratories became international centres for blood-group genetic research, it also offers an expanded history of …
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Construction, implementation, and evaluation of Piagetian concrete operational learning strategies to facilitate student attainment of basic concepts in human genetics
… of the strategies on concept acquisition in human genetics, and (2) growth in intellectual development as a result of the students' being instructed by concrete operational learning strategies rather than lecture.Evaluation of the effectiveness of the learning strategies on human genetics …
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Investigating the Role of Inflammatory Biomarkers and Incretins in the Aetiology of Type 2 Diabetes and Coronary Heart Disease using Human Genetics
Background: The relevance of inflammatory and incretin-related signalling pathways in the aetiology of cardiometabolic diseases is of considerable pharmacological interest but remains uncertain. Evidence from animal models and epidemiological studies point to a role for chronic inflammation for the …
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Impact assessment of participation in a National Science Foundation human genetics and bioethical decision-making workshop on biology teachers' implementation of project synthesis goals
… Teacher Development (PTDS) Projects on Human Genetics and Bioethical Decision-Making held at Ball State University and classroom implementation of the Desired Biology Program described by Project Synthesis. NSF-PTDS Projects at Ball State University and Project Synthesis both focused on …
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An interdisciplinary approach leveraging human genetic variation to identify novel mechanisms of liver disease and pregnancy sickness
A major aim of human genetics in both academic in industrial spheres is to translate a genetic association to a mechanistic understanding of the disease process or trait being studied. The rewards in achieving this are large – a detailed mechanistic understanding of how genetic variation affects a …
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Evaluation of Current Knowledge of Genetics Among Dental Students, Residents and Dental Hygiene Students
… must have a greater understanding of genetics. The Commission on Dental Accreditation (CODA) credentials all dental schools in the United States and currently does not mandate genetics training for official approval of programs. There is little information about dental genetics …
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Gaucer Disease in the Ashkenazi-Jewish Community of South Africa
… of Professor Beighton in the Department of Human Genetics, University of Cape Town Medical School in 1975 and 1976. Further data has been accumulated by the author as a medical registrar at Groote Schuur Hospital in the ensuing period until 1979.
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Deciphering genetic associations using genome-wide epigenomics approaches
Genetic mapping of the drivers of complex human phenotypes and disease through the genome-wide association study (GWAS) has identified thousands of causal genetic loci in the human population. However, genetic mapping approaches can often only reveal a particular causal locus, not the molecular …
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Patterns of linkage disequilibrium in the human genome
… enormous progress has occurred in the field of human genetics, the cloning of complex trait mutations remains a challenging and unresolved process. This continuing difficulty is responsible for an ever-increasing awareness of the phenomenon of linkage disequilibrium (LD). The principle behind LD …
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Population Genetic Annotation of the Human Genome: Identifying Pathogenic Mutations
… there have been a series of breakthroughs in human genetics. The advent of next-generation sequencing (NGS) has made it possible, for the first time, to sequence an entire human genome inexpensively and efficiently. The affordability and ease of NGS has led to an explosion of data. Now, the …
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Post-Lapita developments in the Reef-Santa Cruz Islands, southeast Solomon Islands
The Pacific is a world of islands, so human migrations are necessarily part of the story of this world. It is somewhat surprising therefore to find that there are so many points of contention among archaeologists, linguists and biologists about the role that migrations have played in producing …
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Human genetic concept attainment in secondary biology students through the use of specifically constructed bioethical case studies and a student decision-making model
… relationship between: (a) teachers' knowledge of genetics (b) student attitude towards the use of the case studies and student Decision-Making Model and student genetic concept attainment.The population of this study consisted of 54 high school biology teachers and 2,330 high school biology …
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Improving Clinical Risk Models through Integration of Polygenic Risk Scores and Omics
… traits and diseases, leading to breakthroughs in human genetics research. However, interpretation of these results is often difficult as the GWAS-identified variants (single-nucleotide polymorphisms [SNPs]) often have small effect estimates on target traits, limiting their direct application to …
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Alu retrotransposition-mediated genomic variation within the primate order
… in studies of forensic identity, population genetics, and evolutionary biology. In a computational survey of the human sex chromosomes, 344 recently integrated Alu elements were detected and subjected to empirical testing by polymerase chain reaction to determine presence/absence …
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Exploring the role of programmed axon death genes SARM1 and NMNAT2 in human disease
… proteins have been the focus of recent years, human genetics of PAD had been studied to a much lesser extent, despite growing interest and investment from several pharmaceutical companies to target SARM1 therapeutically. Consequently, the aim of this thesis was to address this knowledge gap and …
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