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 573 for “"Next-Generation Sequencing"”.
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Next Generation Sequencing: Applications for the Clinic
… important for diagnosis of many diseases. Next Generation Sequencing (NGS), while commonly used as a research tool, is steadily making its way into clinical labs. One advantage of NGS is found in the observations that can be made, in addition to primary sequence, by analyzing raw data. This …
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Variant Detection Using Next Generation Sequencing Data
… With recent development of cost effective next generation sequencing (NGS) technologies, it has become possible to identify novel variants with high resolutions and to identify some copy neutral variants such as inversions, which cannot be detected using microarray based technologies. …
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Next-generation sequencing (NGS) for human disease research
차세대 염기 서열 분석법(Next-generation sequencing)은 DNA 유전 정보를 읽어내는 기술을 자동화한 1세대 생어(Sanger) 방식에서 대량의 병렬 데이터 생산이 가능하게 진화한 차세대 염기 서열 분석기가 생산한 데이터를 분석하는 기법을 의미한다. 2007년, 차세대 염기 서열 분석법의 등장은 무어의 법칙(Moore's law)을 능가하는 속도로 염기 서열 분석 비용을 감속시키고 있으며 곧 한 사람의 염기 서열 분석이 $1,000에 가능하게 되리라는 것이 명확해졌다. 차세대 염기 서열 분석법은 정착 단계를 …
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Bioinformatics and Next Generation Sequencing: Applications of Arthropod Genomes
Over the past decade, the Next Generation Sequencing (NGS) technology has been broadly applied in many areas such as genomics, medical diagnosis, biotechnology, virology, biological systematics, forensic biology, and anthropology. Taken together, it has offered us brilliant insights into life …
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Understanding Huntington's Disease pathogenesis using next generation sequencing analyses
… of HD largely results from the extreme degeneration of neurons in the striatum and cortex. The HTT gene encodes the huntingtin (HTT) protein. Over the years, researchers have developed a rich understanding of the consequences of loss of wildtype HTT function, gain of toxic mutant HTT …
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Development And Application Of Next Generation Sequencing Pipelines In Arabidopsis
Chromatin immunoprecipitation followed by sequencing (ChIP-seq) is a widely used assay to uncover the function of proteins of interest by generating a snapshot of the protein’s binding sites in an organism at a certain stage given specific conditions. Previous publications provide recommendations …
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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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Mining disease resistance genes in cassava using next-generation sequencing
… repeat (NBS-LRR) resistance genes. Data from RNA-sequencing of the cassava samples was also applied, for the first time, to the analysis of allele expression at individual single nucleotide polymorphic (SNP) loci. Higher proportion of loci were expressed as heterozygous alleles in resistant …
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Empirical accuracy bounds for next-generation sequencing variant calling workflows
… due to inherent uncertainties introduced by sequencing platforms. In this work we will use simulated data to empirically quantify the maximum performance that can be expected for alignment and variant detection accuracy in a workflow. Short read sequencers are inherently incapable of …
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Sequencing in Isolation: Next-generation sequencing studies in founder populations
… reference panels and very low-depth whole-genome sequencing have been proposed as ways to boost power in next-generation association studies while keeping sequencing costs low. The aim of this work is to leverage the wealth of sequencing data generated as part of the HELIC project to study the …
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Characterising fitness landscapes of protein evolution by next-generation sequencing
… was complicated by limited resolution in the sequencing dataset stemming from poor FACS separation, so I optimised the conditions for better sorting resolution using the mKate2 fluorescent protein as an expression reporter. In the second iteration of the activity sorting I additionally …
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Bayesian Integration and Modeling for Next-generation Sequencing Data Analysis
… information from large-scale genomic data. Next-generation Sequencing (NGS) can now produce high quality data at DNA and RNA levels. However, in cells there exist a lot of non-specific (background) signals that affect the detection accuracy of true (foreground) signals. In this dissertation …
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Genetic determinants underlying rare diseases identified using next-generation sequencing technologies
… underlying these diseases. The advent of next-generation sequencing has accelerated discovery of disease-causing genetic variants and is showing numerous benefits for research and medicine. I describe the application of next-generation sequencing, namely LipidSeq™ ‒ a targeted resequencing …
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Cancer risk prediction with next generation sequencing data using machine learning
The use of computational biology for next generation sequencing (NGS) analysis is rapidly increasing in genomics research. However, the effectiveness of NGS data to predict disease abundance is yet unclear. This research investigates the problem in the whole exome NGS data of the chronic …
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Next-Generation Sequencing of vlsE Recombinational Switching in the Lyme Spirochete
… new assay for switching at vlsE based on PacBio sequencing and an analytical pipeline that allows the analysis of tens of thousands of full-length variants. We developed the first fully-automated and unbiased method to accurately identify switch events and non-templated mutations from sequence …
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Using Next-Generation Sequencing to Identify Genes Mutated in Human Disorders
Next-generation sequencing – and, in particular, exome sequencing, the targeted application of next-generation sequencing to the coding portion of the genome – appeared on the scene, in the last decade, as a promising new way of efficiently searching for and successfully identifying causative …
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Analysis of DNA methylation in canine osteosarcoma using next generation sequencing technology
… cell line (OSCA-29) was sequenced using Nanopore sequencing. Oxford Nanopore sequencing is a sequencing method that measures the variation in ionic current through a biological nanopore as a single-stranded nucleic acid is ratcheted through. These signals can then be used to determine DNA …
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Development of Bioassays Based on Nucleic Acid Amplification and Next-Generation Sequencing
… DNA was PCR-amplified and subjected to next-generation sequencing (NGS). Q Sepharose showed the greatest capacity to capture trace pollen-free DNA and was applied to DNA isolation from two additional honey samples. Additionally, using pollen DNA barcoding and NGS, we have developed a …
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Next-generation sequencing analysis and RNA editing in human brain and glioma
RNA sequencing (RNA-seq) is one of the most common technologies in use today for the analysis of gene expression and transcriptome variation in biological samples (Zhong Wang et al. 2009). As of 2011, the NCBI Sequence Read Archive (SRA) surpassed 100 terabases of sequence data, comprising nearly …
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