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.
Results
Showing 1 to 15 of 15 for “"Somatic variants"”.
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Understanding and Improving Identification of Somatic Variants
… important to understand the entire spectrum of somatic variants to gain more insight into mutations that occur in different cancers for development of better diagnostic, prognostic and therapeutic tools. This thesis outlines our work in understanding somatic variant calling, improving the …
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Developing Methods for Enhanced Measurement of DNA Single-Strand Breaks and Somatic Variants
… reported method that uniquely measures somatic single nucleotide variants in dividing cells to achieve high specificity/sensitivity as well as the ability to temporally resolve variants and to relate sequenced genotypes to optically observed cellular phenotypes. Despite the high-quality …
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Detection of Cell-free Tumor DNA in Liquid Biopsies of Dogs with B cell Lymphoma: A Biomarker Discovery
… was analyzed with bioinformatics tools to detect somatic variants in plasma and tumor samples. Our results revealed many shared somatic variants between matched cfDNA and tumor DNA samples, with 1.7-49% of tumor variants also found in corresponding plasma samples. Shared variants constituted only …
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Analysis of the effect of genetic heterogeneity on de novo genome assembly using Xylocopa virginica as a model.
… heterozygosity 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 …
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Convergence of regulatory mutations into oncogenic pathways across multiple tumor types
… efforts have largely focused on profiling somatic variants in the protein-coding genome and characterizing their functional impact. In this study, we develop a computational pipeline to identify non-coding mutational drivers across multiple tumor types. We describe the non-coding mutational …
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FUNCTIONAL ROLE OF NON-CODING REGULATORY VARIANTS IN NEUROBLASTOMA
Emerging evidence suggests that non-coding somatic variants in cancer can contribute to disease, mainly by residing in functional regulatory regions and ultimately affecting gene expression networks. However, their interpretation is challenging. In our recent work, whole-genome sequencing (WGS) …
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Exploring the genetic landscape in cutaneous T-cell lymphoma with short- and long-read sequencing
… In general, there are recurrent copy-number variants and rare, single nucleotide variants that ultimately cluster in a limited number of pathways, including JAK-STAT- and T-cell receptor signaling. Currently, there is a lack of knowledge about the genetic changes in early and treatment-naïve …
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Accumulation of Somatic Mutations in Normal Human Colonic Epithelium
… cell dynamics in normal human colon by detecting somatic variants affecting X-linked and autosomal genes using immunohistochemistry. Applying neutral clonal marks to a large cohort of patients to interpret age-related trends in clone frequencies has established the baseline stem cell dynamics of …
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Identificación y caracterización completa (ampelográfica, genética, agronómica, enológica, polifenólica, aminoacídica, aromática y sensoríal) de variedades tintas minoritarias de la D.O.C. Rioja
… OIV characters, 24 different genotypes and two somatic variants on berry color were observed. This pinpointed 26 varieties in total, and only two were unknown. The agricultural characterization detected a high variability on the productive parameters. The enological characterization of must and …
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Molecular diagnosis in inherited polycystic kidney disease
… and specificity in identifying germline variants in PKD1 and PKD2, the main genes implicated in ADPKD. Data from the first 85 patients to undergo diagnostic sequencing demonstrated that clinically reportable variants were identified in 91% of patients with a typical ADPKD phenotype and in …
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Deciphering Genomic Evolution: From Early Breast Cancer Stages to Invasive Carcinoma
… exploratory analyses of the discovered somatic variants and discusses the potential for missing data. The third chapter explores the mutational patterns assigned to mutational processes in the early stages of breast cancer development, including the exploration of potential endogenous …
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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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Estudio del origen genético de la variedad de vid Garnacha Blanca, de su diversidad fenotípica y de los efectos moleculares asociados a la variación en el color de la uva
… varietal characteristic traits. In this way, somatic variation is the main source of genetic divsersity to improve traditional varieties either by clonal selection, or for the generation of new derivative varieties, like berry color variants. Garnacha Blanca (GB) is a white-berried variety …
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Establishing the feasibility of using ctDNA for molecular profiling in DLBCL
… this thesis was to develop and validate a custom somatic variant calling and annotation pipeline for use on DLBCL FFPE biopsy and plasma ctDNA samples. This was conducted in the context of a prospective observational clinical trial, DIRECT. After establishing the variant calling pipeline, the next …
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Integrative Analysis of Omics Data In Adult Glioma and Other Tcga Cancers to Guide Precision Medicine
… promote the understanding of gene signatures and somatic molecular alterations contributing to cancer progression and clinical outcomes. Following this motivation, my dissertation has been focused on the following three topics in translational genomics.</p> <p>1) Characterization of transcriptomic …