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 39 for “"whole genome sequence"”.
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Development of computational approaches for whole-genome sequence variation and deep phenotyping
… possible to detect variants in 98% of the human genome. A drop in sequencing costs made it feasible to sequence 10,000 individuals including 1,250 subjects diagnosed with PAH and relatives as part of the NIHR Bioresource – Rare (BR-RD) disease study. This large cohort allows the genome-wide …
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Fine Mapping and Candidate Gene Discovery at the Rsv3 Locus
… In this study, the recently released soybean whole genome sequence was used to design molecular markers for fine mapping Rsv3 to a ~150 kb genomic region containing four coiled-coil nucleotide-binding leucine-rich repeat proteins. In a related study a large population segregating at the Rsv3 …
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Use of Short Amino Acid Motifs in the Computational Analysis of Protein Diversity and Function
The explosion of whole genome sequence and environmental sequence data afford us the opportunity to explore protein diversity and protein function. This is particularly exciting given the nascent field of synthetic biology. A comprehensive computational analysis of extant proteins is needed in …
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Genomic selection for high quality beef production
… to form a reference population for imputation to whole genome sequence. Methods investigated used relationship matrices or haplotype libraries. The MCG method, which utilises a genomic relationship matrix to select animals highly related to the target population but distantly related to other …
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Genetic and dietary determinants of Type 2 diabetes in a black South African population
… variants associated with T2D using novel whole genome sequences of people of Setswana descent; 3) the nutrient patterns associated with glycated hemoglobin and fasting glucose in a black South African population. Methods: Four types of genetic risk scores (GRS) were computed using the 66 …
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Conserved recombination patterns across coronavirus subgenera
… both from controlled experiments and in genome sequences sampled from nature, that patterns of recombination in coronaviruses are nonrandom and that this is likely attributable to a combination of sequence features that favour the occurrence of recombination breakpoints at specific …
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A Fast-Graph Approach to Modeling Similarity of Whole Genomes
As increasing numbers of closely related genomic sequences become available, the need to develop methods for detecting fine differences among them also grows apparent. Several calls have been made for improved algorithms to exploit the wealth of pathogenic viral and bacterial sequence data that are …
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The role of BCLFA1 in cellular transformation
… chromosome 6q23 has previously been detected by whole genome sequence analysis of DNA from oesophageal cancer biopsies. Although the role of BCLAF1 is not well defined, some studies have shown BCLAF1 to have functional connections linked to some of the known hallmarks of cancer such as cell …
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The Role of Polyploidy in Phenotypic and Genomic Evolution in the Shy Monkeyflower, <i>Mimulus sookensis<i>
… medium: genetic variation. Polyploidy, or whole genome duplication, is a major mechanism for evolutionary change because it is both widespread across taxa and results in a proliferation of genetic material that evolution can act upon. The key questions addressed here are: (1) How does …
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Techniques for the identification and differentiation of Cronobactor species
… of all Cronobacter spp. Next, the DNA sequence-based method of multilocus sequence typing (MLST) was used to identify and characterize a collection of Cronobacter strains and these results were used in a variety of applications. These sequences were used to identify a novel species, …
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Hybridization And Introgression In Marine Invertebrates: Population Genomics Of Phymactis Papillosa And Asterias Sea Stars
… marine invertebrates (Sanford & Kelly,2011) yet genome-wide investigations of gene flow in these taxa remain limited relative to vertebrate systems (Marchi et al., 2021). This thesis presents genomic analyses of hybridization and introgression in two marine invertebrates occupying contrasting …
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Methods for Analysis of Prokaryotic Genome Architecture
… been organized around the concept of reference genomes. Reference genomes provide a useful comparative touchstone for closely related organisms. However, they do not necessarily represent the biological diversity in a group of genomes. Currently there are more than 96,000 bacterial genomes …
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Identification of Genetic Copy Number Variants in Neurodevelopmental Disorders from Genome Sequence Data
… tools have been developed to identify CNVs from whole exome or whole genome sequence reads. However, there are no established best practices for CNV detection, and the use in molecular diagnostics is not routine. This thesis aimed to establish a bioinformatic framework for the identification of …
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Exploring the evolution of social behaviour using genomic data
… technology to generate the brain Expressed Sequence Tags (ESTs) of twelve socially diverse bees. The ESTs were assembled into species-specific non-redundant contigs and singletons, which were loaded into a MySQL database using custom scripts. The Honey Bee Homolog Blast website was designed …
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Investigating the role of demography and selection in genome scale patterns of common and rare variant diversity in humans
… an unprecedented increase in the availability of whole genome sequence (WGS) data has reshaped the field of human evolutionary genomics. However, many earlier sequencing projects like the HapMap and 1000 Genomes panels focussed on a limited set of populations. Therefore, more research has been …
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The Genetic Basis of Phytate, Oligosaccharide Content, and Emergence in Soybean
… of the low phytate trait in CX1834. By using the whole genome sequence, we identified two candidate multidrug resistance-associated (MRP) ABC transporter genes. Sequencing the genes from CX1834 and comparing them to the reference genome sequence revealed a single nucleotide polymorphism (SNP) in …
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Investigations of Carbapenem-resistant Klebsiella species and associated clinical considerations
… = 36) and Klebsiella oxytoca (n = 3). Detailed whole-genome sequence (WGS) analyses showed the K.oxytoca were Klebsiella michiganensis and one of the K. pneumoniae strains to be Klebsiella variicola subsp. variicola. The K. michiganensis strains were all of sequence type 138. They were predicted …
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Molecular-genetic characterisation of arginine auxotrophy in the opportunistic human pathogen, Pseudomonas aeruginosa
… to grow, even in the absence of this amino acid. Whole genome sequencing revealed that one of these bypass mutants (denoted hereafter, AMB128) contained a single nucleotide polymorphism (SNP) in the ambA gene. Complementation analysis confirmed that the SNP in ambA was responsible for the arginine …
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