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 11 of 11 for “"sequencing error"”.
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Development of Novel Methods to Minimize The Impact of Sequencing Errors In The Next-Generation Sequencing Data Analysis
<p>Next-generation sequencing (NGS) technology has become a prominent tool in biological and biomedical research. However, NGS data analysis, such as <em>de novo</em> assembly, mapping and variants detection is far from maturity, and the high sequencing error-rate is one of the major problems. …
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Computational Frameworks to Interpret Genetic Abnormalities in Hematologic Malignancies
In the era of high throughput sequencing technologies, the speed of genomic data generation exceeds our abilities to store, analyze and interpret the data without high-performance computing facilities. In hematology, next-generation sequencing (NGS) is being utilized for diagnosis, prognostication, …
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Computational Methods for Haplotype-aware De Novo Genome Assembly from Long Reads
… haplotypes. Over the last few years, long-read sequencing technologies such as Pacific Biosciences and Oxford Nanopore Technologies, have greatly improved haplotype phasing and genome assembly because of the tremendous advantages in terms of read length. Nevertheless, the vast majority of …
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Statistical Methods For Assessing Structural Change In Human & Microbial Genomes
<p>Genetic sequencing has been recognized as an effective approach to accurately address biological problems, such as clinical detection of disease, mutation discovery, and targeting specific biomarkers associated with complex diseases. Compared with conventional Sanger sequencing, next-generation …
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Computational methods for the analysis of next generation sequencing data
Recently, next generation sequencing (NGS) technology has emerged as a powerful approach and dramatically transformed biomedical research in an unprecedented scale. NGS is expected to replace the traditional hybridization-based microarray technology because of its affordable cost and high digital …
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DEVELOPMENT OF FECAL DNA SAMPLING METHODS TO ASSESS GENETIC POPULATION STRUCTURE OF GREATER YELLOWSTONE BISON
… to assess amplification success and genotyping error rates. The amplification success rate was 92% and the genotyping error rate was 12% on average across all individuals, and loci. Exclusion of two poor quality samples from data analyses increased amplification success to 97%, and reduced the …
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DEVELOPMENT OF FECAL DNA SAMPLING METHODS TO ASSESS GENETIC POPULATION STRUCTURE OF GREATER YELLOWSTONE BISON
… to assess amplification success and genotyping error rates. The amplification success rate was 92% and the genotyping error rate was 12% on average across all individuals, and loci. Exclusion of two poor quality samples from data analyses increased amplification success to 97%, and reduced the …
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Unsupervised Signal Deconvolution for Multiscale Characterization of Tissue Heterogeneity
… intercellular heterogeneity directly from mixed sequencing reads. SIGH works by exploiting the statistical differences in both the sequencing error rates at different nucleobases and the read counts of fake sequences in relation to genuine clones of variable abundance.
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Analysis of the impact of sequencing errors on BLAST using fault injection
This thesis investigates the impact of sequencing errors in post-sequence computational analyses, including local alignment search and multiple sequence alignment. While the error rates of sequencing technology are commonly reported, the significance of these numbers cannot be fully grasped without …
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Next-Generation Approaches to Understanding the Diversity and Evolution of Marine Fungi
… with the increasing adoption of environmental sequencing as a primary tool for exploring fungal diversity and ecology across disparate habitats, the discovery of novel phylotypes representing new species—and in some cases, even new phyla—demands a reappraisal of fungal diversity in marine …
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The evolutionary dynamics of clonal haematopoiesis and its progression to acute myeloid leukaemia
… haematopoiesis driver mutation. Using blood sequencing data amassed from ~50,000 individuals, combined with insights from evolutionary theory, we developed a framework to quantify the mutation rates and fitness effects of clonal haematopoiesis variants down to single nucleotide resolution. …