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 “"Variant detection"”.
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Variant Detection Using Next Generation Sequencing Data
Genetic variants, including single nucleotide polymorphisms (SNPs) and genomic structural variations (SVs), not only contribute to human diversity, but also are important to human health because some of them are proved to trigger diseases such as cancer, obesity and diabetes. With recent …
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1q21.1 syndrome: A perspective on Structural Variant detection & the evolutionary profile of associated protein domains
… estudio es diseñar un pipeline de detección de variantes estructurales a partir de secuenciación con long reads. El proyecto incluye la simulación de genomas con diversas variantes estructurales y la simulación de reads de secuenciación que permitan validar la aplicación de este pipeline. El …
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Single nucleotide polymorphism array analysis in copy number variant detection: assessment of its feasibility in the diagnostic setting
… microarray technologies are due to copy number variants (CNVs), whereas only 3 to 5% of ID/DD can be identified with conventional cytogenetics. The Affymetrix® Cytoscan™ High Density (HD) Array (Affymetrix, Santa Clara, CA) containing over 2.4 million markers for copy number (CN) was used to …
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COVID-19 Variant Analyzer through Genomic Sequences and Jaccard Similarities
… to track the emergence and spread of SARS-CoV-2 variants. This study developed a novel computational framework to enhance variant detection by leveraging a database-driven approach and genomic sequence analysis. The framework utilizes MySQL database architecture where each variant is stored in …
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Empirical accuracy bounds for next-generation sequencing variant calling workflows
… the accuracy bounds imposed on alignment-based 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 …
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Proteogenomics for Personalised Molecular Profiling
… integration and unbiased modification and variant detection hinder efforts for large-scale proteogenomics studies. The main objectives of this work are to address these issues by developing and applying new software tools and data analysis methods. Firstly, I address mapping of peptide …
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Clinical Utility and Impact of Targeted Nucleic Acid Sequencing in Myeloid Malignancies and Precursor Lesions
… (Thermo Fisher). We further compare commercial variant analysis workflows accompanying the panel with a custom analysis pipeline, demonstrating that supplementing commercial filters with manual variant interpretation improves variant detection. We also performed prospective sequencing in …
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NOVEL APPROACHES IN GENETIC VARIANT DISCOVERY AND CLASSIFICATION TACKLING UNSOLVED PROBLEMS IN CANCER CLINICAL GENOMICS
Accurate interpretation of germline and somatic variants plays a pivotal role in clinical practice, providing the foundation for the correct diagnosis and targeted therapy in personalized medicine. However, variant classification is a complex process that requires the integration of multiple, often …
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Analysis of the effect of genetic heterogeneity on de novo genome assembly using Xylocopa virginica as a model.
… resulting both from ploidy and somatic variants can affect the result of an assembly with former shown to be a much bigger player than the latter. Furthermore, we observed that the density of variants was moderately correlated to the density of breakpoints in the genome assemblies. …
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Computational methods for the analysis of next generation sequencing data
… are developed and implemented for detecting variants in analysis of individual or pooled DNA sequencing data. SNVer formulates variant calling as a hypothesis testing problem and employs a binomial-binomial model to test the significance of observed allele frequency by taking account of …
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Exploring the effect of peri-operative inflammation on systemic and local breast cancer biomarkers
… differences in peri-operative ctDNA and cfDNA detection. Chi-squared or Fisher’s exact test (ranksum) were carried out to assess associations between ctDNA/cfDNA detection and clinical variables. Binary logistic regression analysis was performed to predict the likelihood of ctDNA positivity …