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 410 for “"Genotyping"”.
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Blood Donor Genotyping
… commercial assays have been developed for donor genotyping. However, due to the limited number of antigens typed for and the low throughput capacity of these assays, they have not been widely applied to blood donor typing. Advances in the technologies used for genome-wide genotyping and …
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Development of genotyping systems for pharmacogenomics profiling
… of robust and high throughput techniques for genotyping ten polymorphisms related to anticancer drugs and ten polymorphisms related to cholesterol lowering drugs. SNaPshot minisequencing and high resolution melt analysis (HRM) genotyping panels were developed, optimized, and their performances …
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Integrated array-on-a-chip for genotyping
… and potentially high-throughput tool for rapid genotyping and environmental monitoring.
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Bioinformatics framework for genotyping microarray data analysis
… instrumentation and microarray data analysis. Genotyping microarrays establish the genotypes of DNA sequences containing single nucleotide polymorphisms (SNPs), and can help biologists probe the functions of different genes and/or construct complex gene interaction networks. The enormous amount …
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Linear clustering with application to single nucleotide polymorphism genotyping
… wide range of genetic studies. A high-throughput genotyping technologies usually involves a statistical genotype calling algorithm. Most calling algorithms in the literature, using methods such as k-means and mixturemodels, rely on elliptical structures of the genotyping data; they may fail when …
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Multiplexed genotyping of single nucleotide polymorphisms using microarray technology
… a great potential for highly parallel genotyping. Secondly, an innovative two-color platform (TATLIPEXA) was successfully developed which could accurately interrogate all kinds of SNPs and some short insertions/deletions simultaneously with the use of only two fluorescently labelled …
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Novel molecular engineering approaches for genotyping and DNA sequencing
… and single nucleotide polymorphism (SNP) genotyping by mass spectrometry. These nucleotide analogs have a biotin moiety attached to the 5 position of the pyrimidines (C and U) or the 7 position of the purines (A and G) via a chemically cleavable azido-based linker, with different length …
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Algorithmic advances towards a fully automated DNA genotyping system
Short Tandem Repeats (STR) genotyping is a leading tool in forensic DNA analysis. In STR genotyping, alleles in a sample are identified by measuring their lengths to form a genetic profile. Forming a genetic profile is time-consuming and labor-intensive. As the technology matures, increasing demand …
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Improving Estimation of Coronary Artery Disease Risk Using Haptoglobin Genotyping
… of ASCVD risk estimation to describe how Hp genotyping affects CAD risk. First, a conceptual model that describes a more comprehensive ASCVD risk assessment approach than is currently used in clinical practice is described. This conceptual model depicts how adding social risk factors and Hp …
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Thiopurine methyltransferase phenotyping and genotyping in clinical practice preferred access arrangement
Thiopurine methyltransferase (TPMT) metabolises the widely prescribed thiopurine drugs. The activity of this enzyme varies between individuals and this can influence treatment success. Rapid and accurate assays of TPMT and 6TGN, the active thiopurine metabolites, are increasingly recognised as …
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Navigating through the uncertainty of genotyping-by-sequencing data in polyploids
The development of genotyping-by-sequencing (GBS) methods has facilitated genomics studies in non-model species, including polyploids. Variant and genotype calling methods have been established for autopolyploids but for a species with a complex genome, such as sugarcane, the level of uncertainty …
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Determining Plasmodium falciparum Malaria Transmission Networks Through Sequenom And Capillary Electrophoresis Genotyping
Declining malaria transmission leads to infection hotspots which need to be targeted to eliminate and eradicate malaria. The degree of parasite mixing in and around transmission foci is likely to impact the effectiveness of targeted interventions and should be considered when developing control …
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Polymerase chain reaction-based genotyping of swine MHC DQB and DRB alleles
"Molecular genotyping the swine major histocompatibility complex DQB and DRB loci using the PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) analysis technique is described. SLA DQB and DRB locus-specific oligonucleotide primers were designed to analyze expressed genes …
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Linkage mapping in prairie cordgrass (Spartina pectinata Link) using genotyping-by-sequencing markers
… inheritance patterns (disomic versus polysomic). Genotyping-by-sequencing (GBS) was applied to a population of 85 progeny from a reciprocal cross of heterozygous tetraploid parents. A total of 26,418 SNPs were discovered, with a distribution of allele frequencies suggesting disomic inheritance. A …
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Genome-graph based genotyping with applications to highly variable genes in P. falciparum
… graphs as a substrate for read mapping and genotyping instead. In this thesis, I develop new algorithms and data structures for genotyping highly variable genes in Pf, using genome graphs. In Chapters 2 and 3, I describe methods and code to analyse variation in highly diverse regions of the …
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Bayesian Hidden Markov Models for finding DNA Copy Number Changes from SNP Genotyping Arrays
DNA copy number variations (CNVs), which involve the deletion or duplication of subchromosomal segments of the genome, have become a focus of genetics research. This dissertation develops Bayesian HMMs for finding CNVs from single nucleotide polymorphism (SNP) arrays. A Bayesian framework to …
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Development of Y-STR genotyping systems suitable for sexual assault cases in South Africa
… In this context, efficient but also affordable genotyping systems are needed for positive identification of criminals in incidences of sexual violence. The aim of this study was therefore to develop non-commercial Y-STR genotyping systems suitable for sexual assault cases in South Africa. …
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Next Generation Sequencing-Based Genotyping of Human Blood Groups: FY, JK and ABO Genes
… in multiply transfused patients. Blood group genotyping (BGG) has contributed in reducing this issue. ABO, Fy and Jk antigens are among those to be causative for alloimmunisation through transfusion or pregnancy. The number of alleles of these clinically significant blood groups is ever …
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Phylogeography of eastern leatherwood (Dirca palustris L.) resolved by chloroplast sequencing and microsatellite genotyping
… modeling, chloroplast sequencing, microsatellite genotyping, and phenotypic investigations to answer questions about the historical and contemporary distribution of populations and genes of D. palustris across the landscape of eastern North America. Ecological niche modeling supported my …
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A gene-space de Bruijn graph framework for improved genotyping of antimicrobial resistance genes
Identifying antimicrobial resistance (AMR) in bacteria is critical for surveillance and clinical diagnosis. Conventional antimicrobial susceptibility testing involves culturing isolates and measuring growth across antimicrobial concentration gradients. However, this approach is slow and may yield …
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