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 142 for “"Mendelian"”.
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Mendelian and Non-Mendelian Ancestral Repair for Constrained Evolutionary Optimisation
… the topic of genetic repair and introduces a non-Mendelian repair operator that has been inspired by a naturally occurring genetic repair mechanism in the Arabidopsis thaliana plant. Thus, the analogy between EA and natural evolution is extended to incorporate this (still highly controversial) …
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Robust methods in Mendelian randomization
Mendelian randomization uses genetic variants as instrumental variables to estimate the causal effect of a risk factor on an outcome using observational data. If a genetic variant is included in a Mendelian randomization study that does not satisfy the instrumental variable assumptions then the …
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Clinical epigenetics of Mendelian neurodevelopmental disorders
Contains fulltext : 311851.pdf (Publisher’s version ) (Open Access)
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Using human examples to teach Mendelian genetic concepts : assessing acquisition and retention
… study was designed to investigate whether or not Mendelian genetics instruction using human examples, in contrast to traditional genetic examples, would facilitate the acquisition and retention of four genetic concepts: (1) complete dominance, (2) incomplete dominance, (3) law of segregation, and …
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Towards More Accurate Causal Inference with Instrumental Variables and Mendelian Randomisation Analyses
… variables in epidemiological studies is known as Mendelian Randomisation (MR). The conventional modelling assumption for using IVs is to assume a linear structural equation model between the exposure and the outcome. In recent years, there have been various developments in the literature that …
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Next-Generation Mendelian Randomization: Advanced and Reliable Methods for Complex Causal Inference
Mendelian randomization is an epidemiological method that uses genetic variants as instrumental variables to study the causal effects of exposures on outcomes. Conventional MR is primarily implemented to test or estimate effects in relatively simple forms. However, to gain deeper insights into …
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Statistical Approaches to Estimate Bidirectional and Time-Varying Causal Effects Using Mendelian Randomization
<p>Mendelian Randomization (MR) is an epidemiological framework using genetic variants as instrumental variables (IVs) to examine the causal effect of an exposure on an outcome. It is widely used to detect causal factors of diseases and provide insight into the biological pathway of diseases. …
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Detection of Genes Influencing Chronic and Mendelian Disease Via Loss-of-Function Variation
<p>A typical human exome harbors dozens of loss-of-function (LOF) variants predicted to severely disrupt or abolish gene function. These variants are enriched at the extremely rare end of the allele frequency spectrum (< 0.1%), suggesting purifying selection against these sites. However, most …
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Functions of RNA exosome and tRNA splicing ligase in Mendelian and Infectious diseases
… of RNA exosome and tRNA splicing ligase in Mendelian and Infectious diseases</p> <p>Khondakar Sayef Ahammed, M.S.</p> <p>Advisory Professor: Ambro van Hoof, Ph.D.</p> <p><strong> </strong></p> <p>RNA maturation and degradation reactions are important for health and survival of all organisms. …
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Statistical issues in Mendelian randomization: use of genetic instrumental variables for assessing causal associations
Mendelian randomization is an epidemiological method for using genetic variation to estimate the causal effect of the change in a modifiable phenotype on an outcome from observational data. A genetic variant satisfying the assumptions of an instrumental variable for the phenotype of interest can be …
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Identification of DNA Methylation Episignatures for Classification and Phenotype/Genotype Correlation in Mendelian Neurodevelopmental Disorders
ABSTRACT: Diagnosis for neurodevelopmental disorders poses numerous challenges, related to the lack of specific findings and limited understanding of clinical impact of the majority of genetic variation. Epigenomics mechanisms involve chemical modifications in DNA that involve a range of cellular …
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Genetic Variations in Type 2 Diabetes and Cardiovascular Disease: A Focus on Gene-Lifestyle Interactions and Mendelian Randomization
… Similar results were obtained in multivariable Mendelian randomization analyses using MDCS (P = 0.008) and genome-wide association studies data (P = 5×10-7). Using similar analyses, a direct causal association was observed between LDLC and CHD. In conclusion, this thesis provides important …
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The evolution of biological theories: explaining the success of Mendelian genetics, Darwin’s Theory of natural selection and their synthesis
… biological community until its synthesis with Mendelian genetics. I investigate the history of both sciences, with the aim discovering why Mendelian genetics and the synthesis were scientifically successful. One possible explanation for this is given by constructivism, the view that …
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The Search for Regulatory Mutations in Gitelman Syndrome
… large effect sizes, which are responsible for Mendelian diseases. Roughly 70% of human genes are single copy and have orthologs across the vertebrate lineage, suggesting that they are under purifying selection. This suggests that at least 10,000 genes will have Mendelian phenotypes when mutated …
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Computational methods to dissect the genetic basis of human disease
… the shared genetic architecture between Mendelian disease and common disease by developing a machine learning framework to impute and denoise Mendelian disease-derived pathogenicity scores. I assess the informativeness of Mendelian pathogenicity scores for common disease and improve upon …
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Germline Mutation Detection In Next Generation Sequencing Data and Tp53 Mutation Carrier Probability Estimation For Li-Fraumeni Syndrome
… variant calling method, FamSeq, integrating Mendelian 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 …
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Genetic and non-genetic factors involved in modifying the clinical severity of autosomal dominant polycystic kidney disease
… kidney disease (ADPKD) is one of the most common Mendelian disorders, affecting approximately 1 in 1000 individuals. The disease is recognised as a systemic disorder, which expresses a complex phenotype between and within families. Mutations in at least two genes (PKDI and PKDZ) result in ADPKD, …
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Somaclonal Variation in Soybeans
… wrinkled leaf phenotype (with a simple recessive Mendelian inheritance) and sterility (single recessive gene trait) were seen in three or more generations of the same family. Wrinkled leaf phenotype was associated with partial sterility and may be unstable since some plants showed sectors of the …
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Genetic, Morphological, and Behavioral Analysis of the Oklahoma Salamander (Eurycea Tynerensis) in Southwestern Missouri
… is likely that the color morphs are a result of Mendelian genetics.
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