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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 455 for “"Genome sequencing"”.
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Estimating telomere length from whole genome sequencing data
… Parabam, as well as their applications to whole genome sequencing (WGS) data. Telomerecat is a tool for estimating telomere length from WGS data. The strength of Telomerecat lies in its applicability. This applicability is due to a number of advantages over previous attempts to estimate telomere …
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Operational streamlining in a high-throughput genome sequencing center
… provided. It is therefore critical for the Genome Sequencing platform of the Broad Institute of MIT and Harvard to continually strive to reduce cost, improve throughput, and increase the quality of its data output. In the past, new technology in the form of both chemistry improvements and …
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Advancing RNA Virus Discovery and Biology with Whole Genome Sequencing
… to define these mechanisms is the lack of whole genome sequences for many of these viruses. To address this specific gap, I developed a versatile amplicon-based whole-genome sequencing (WGS) approach to identify viral genomes of hantaviruses and severe acute respiratory syndrome coronavirus 2 …
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Genome sequencing and phenotypic analysis of single cells in cancer
… metastatic cancer. The vast majority of cancer genome profiling (~99%) is done on primary tumors; yet, metastatic cancer is attributed to >90% of cancer-related deaths. The underlying challenge is that metastatic cancer is difficult to sample: surgical resections are less common, metastatic …
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Approaches to mitochondrial genome sequencing using the oxford nanopore minion device
Current DNA sequencing methods rely on polymerase chain reaction (PCR) to create sufficient copies of targeted DNA fragments to serve as a library. PCR and subsequent clean-up steps add considerable time and cost to the process and provide opportunity for introduction of amplification errors or …
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COMPREHENSIVE WHOLE GENOME SEQUENCING UNRAVELS THE COMPLEX GENOMIC LANDSCAPE OF NEUROBLASTOMA
… spectrum of clinical outcomes. Although the genome of this tumor has been extensively studied through the last decades, a comprehensive analysis of NBL mutational landscape – which may expain its complexity – is still lacking. Moreover, while the role of germline variants in the …
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Identification of Familial Wilms Tumor Predisposition Genes Using Whole Genome Sequencing
… penetrance, estimated to be 30%.</p> <p>Whole genome sequencing of eleven individuals in three Wilms tumor families was performed to identify the gene(s) responsible for genetic predisposition to Wilms tumor in these families, and to increase our understanding of a genetically heterogeneous …
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Whole genome sequencing to characterize Cutthroat Trout populations across the Continental Divide
… markers representing only a small portion of the genome, such as with ND2 mitochondrial DNA haplotypes, microsatellites, and amplified fragment length polymorphisms (AFLPs), and have not included a comprehensive nuclear DNA assessment from all extant lineages of Cutthroat Trout found in Colorado. …
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Decoding The Evolutionary Response to Prostate Cancer Therapy Using Plasma Genome Sequencing
<p>Investigating genome evolution in response to therapy is difficult in human tissue samples due to the difficulty in accessing metastatic tumor sites and logistical challenges of collecting longitudinal samples. To overcome these issues, we developed an unbiased whole-genome plasma DNA sequencing …
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Understanding parent/caregiver support needs during genome sequencing in a pediatric research setting
Pediatric patients benefit from genome sequencing (GS) for disease diagnosis, treatment guidance, and reducing diagnostic delays. However, parents and caregivers navigating this complex system face unique challenges, including informed consent, understanding results, and managing expectations. The …
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Investigating Invasion In Ductal Carcinoma In Situ With to pographical Single Cell Genome Sequencing
… challenges, we developed Topographic Single Cell Sequencing (TSCS), which combines laser-catapulting with single cell DNA sequencing to measure genomic copy number profiles from single tumor cells while preserving their spatial context. We applied TSCS to sequence 1,293 single cells from 10 …
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Insights into the genomic histories of diverse human populations using whole-genome sequencing analysis.
… 54 human populations which are part of the Human Genome Diversity Project (HGDP-CEPH) panel. Using whole-genome sequences previously produced at the Wellcome Sanger Institute, I generated a comprehensive catalogue of structural variation identifying a total of 126,018 variants, of which 78% are …
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In situ genome sequencing: genomic measurement at the convergence of structure and molecular identity
… of measurement technology: microscopy and DNA sequencing. Microscopy directly provides rich information on structure and organization, while sequencing directly provides rich information on the identities of molecular species. Both microscopy and sequencing have developed the resolution needed …
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Operations capability improvement of a molecular biology laboratory in a high throughput genome sequencing center
… contains the world's largest high throughput genome sequencing center, which contributed approximately one third of the sequence for the Human Genome Project (HGP) completed in 2003. The Molecular Biology Production Group (MBPG) is the most upstream part of the Broad Institute's genome …
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Genome sequencing technology : improvement of the electrophoretic sequencing process and analysis of the sequencing tool industry
A primary bottleneck in DNA-sequencing operations is the capacity of the detection process. Although today's capillary electrophoresis DNA sequencers are faster, more sensitive, and more reliable than their precursors, high purchasing and running costs still make them a limiting factor in most …
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Draft Genome Sequencing and Suppressive Subtractive Hybridization Analysis of the Fiber -Degrading Components of Ruminococcus Flavefaciens Fd-1
*This dissertation is a compound document (contains both a paper copy and a CD as part of the dissertation). The CD requires the following system requirements: Internet Browser; Microsoft Office.
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Enhancing Early Detection of Oesophageal Squamous Cell Carcinoma Through Shallow Whole-Genome Sequencing and Non-Endoscopic Sponge Sampling
… I explored the potential of shallow whole-genome sequencing (sWGS) to detect genome-wide copy number alterations (CNAs) in cells collected using a non-endoscopic sponge pan-oesophageal sampling device (Cytosponge) for the early detection of OSCC and its precursor lesions, oesophageal …
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Whole genome sequencing approach to identifying genetic risk factors underlying anterior cruciate ligament injuries in a twin family study
… and extrinsic risk factors. Variation in the genome is now considered a key intrinsic risk factor, but the majority of currently implicated loci have been identified through case-control genetic association studies, which are limited by a candidate gene approach and insufficient statistical …
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Identification Of Candidate Genes For Self-Compatibility In A Diploid Population Of Potato Derived From Parents Used In Genome Sequencing
… F1 hybrids between two genotypes used in potato genome sequencing, we observed fruit set on many greenhouse-grown plants. Subsequently, after controlled self-pollinations, we confirmed fruit set in 32 of 103 F1 plants. Our goal was to identify genes responsible for self-compatibility in this …
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Understanding the Effects of Genetic Variation on Osmo-adaptation Dynamics Across S. cerevisiae using Bulk Segregant Analysis and Whole Genome Sequencing
<p>Adapting to environmental changes (i.e. an increase in osmolarity) is critical for cell survival. How cells respond and adapt to osmotic stress has been well-studied in the model eukaryote Saccharomyces cerevisiae. Although the molecular and systems properties of osmo-adaptation have been well …
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