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 8 of 8 for “"Deleterious mutation"”.
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Identification of low-penetrance alleles, genetic modifiers and mutation analysis in familial breast cancer cases
To date, germline mutations in known high-penetrance genes, mainly <i>BRCA1</i> and <i>BRCA2</i>, and in moderate- and low-penetrance genes are responsible for approximately 30- 35% of breast cancer familial clustering, leaving the majority of them unexplained. In addition, the variability of the …
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Steady states in rapidly evolving populations
Populations are subject to mutations conferring beneficial effects, as well as mutations conferring deleterious effects. Even if deleterious mutations occur much more frequently than beneficial mutations, the contribution of deleterious mutations to the overall rate of change of the population-wide …
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Ancestral structures in population genetics and a generalisation to birth-death processes with catastrophes
… the framework of the two-type Moran model with mutation and selection, we use the pruned-lookdown ancestral selection graph (pLD-ASG), which consists of a set of potential ancestors of the sampled individual at any given time, to investigate the line of descent of a randomly-sampled individual …
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Identification of Deleterious and Disease Alleles in a General Population and Preterm Labor Patients
… well understood how often and by what mechanism deleterious alleles disrupting strong sequence conservation can become common in population frequency and affect complex traits in humans. Moreover, in non-coding regions, even for known disease-causing genes, it is not clear how sequence …
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Identification and Characterization of De Novo Germline Tp53 Mutation Carriers In Families With Li-Fraumeni Syndrome
… is an inherited cancer syndrome caused by a deleterious mutation in TP53. An estimated 48% of LFS patients present due to a de novo mutation (DNM) in TP53. The knowledge of DNM status, DNM or familial mutation (FM), of an LFS patient requires genetic testing of both parents which is often …
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Roles of RNA interference and DNA mismatch repair in maintaining genomic integrity in Cryptococcus pathogens
… stability to strike a balance between excessive deleterious mutation and evolutionary stagnation to successfully compete and endure within their ecological niches. Two important mechanisms involved in maintaining genomic stability are RNA interference (RNAi) and DNA mismatch repair (MMR). RNAi …
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LEVERAGING EVOLUTION TO UNDERSTAND GENETIC LOAD IN CASSAVA (MANIHOT ESCULENTA)
… load due to the accumulation of underlying deleterious mutations has been hypothesized as an underlying cause for these difficulties. In recent years genomic selection has been adopted as a strategy to accelerate genetic gain and quickly purge genetic load. Obtaining accurate and consistent …
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Studies on the interaction between porcine reproductive and respiratory syndrome virus and its natural host cell
… by a laboratory PRRSV strain with a unique and deleterious mutation in the N-terminal region of NSP2, for which the virus losses the ability to sequester its dsRNA inside intracellular membrane structures and thus away from detection by viral nucleic acid sensors, resulting in a substantial type …