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 12 of 12 for “"proteogenomic"”.
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Identification of potential drug targets in glioblastoma using proteogenomic platforms
Glioblastoma Multiforme (GBM) is a solid tumour of the central nervous system. To this date, it is the most aggressive primary brain tumour in adults, and few therapeutic solutions are available. This, in addition to the aggressiveness of the tumour, determine a low survival rate in patients. The …
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Proteogenomic Insights Into The Nature Of Chemoresistance In Chronic Myelogenous Leukemia
Chronic Myelogenous Leukemia (CML) is a hematopoietic cancer caused by the formation of the Philadelphia chromosome, a reciprocal translocation of the ABL1 oncogene on chromosome 9, and the breakpoint cluster region gene (BCR) chromosome 22, resulting in the BCR-ABL oncoprotein. BCR-ABL is a …
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Causal Gene Prioritization Across Diverse Diseases Through Multi-Omic Data Integration
… risk as a use case, (ii) integration of proteogenomic with phenome-wide data to systematically prioritise candidate causal genes across diverse human diseases and (iii) testing the importance of sex differences in these studies and their findings. Firstly, I conducted exome-wide gene …
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Computational Frameworks to Interpret Genetic Abnormalities in Hematologic Malignancies
… computational workflow that analyzes single-cell proteogenomic sequencing data to identify relapse-fated subclones from the time of diagnosis in an FLT3-ITD+ AML case. Simultaneous proteogenomic profiles allow the refinement of clonal models relying only on mutation profiles and help identify …
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Transcriptomic and proteomic dysregulation in neuropsychiatric disorders
… protein-coding and noncoding. In Chapter 5, a proteogenomic pipeline which combines proteomic and genomic datasets for nORF identification - proteomic data matches against genomic data to identify novel, unannotated peptide sequences such as nORFs, was described. However, proteomic datasets are …
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Statistical Modeling Approaches For The Inference of Cancer Mechanisms
… Using kidney renal clear cell carcinoma proteogenomic data, we identified genes that are mediated by proteins and the underlying mechanisms on various survival outcomes that capture short- and long-term disease-specific clinical characteristics. Aim 2: We have developed an allele-specific …
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Medical Microbiology: Discovery of New Antimicrobial Drugs to Treat Clinically Relevant Antibiotic Resistant Pathogenic Bacteria
… AMR, is another important outcome. The optimized proteogenomic analysis has provided a means to shortcut some of the more laborious dereplication methods and has facilitated rapid identification of novel antimicrobial agents. In addition, this work has provided further evidence indicating that …
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Proteogenomics for Personalised Molecular Profiling
… analysis of genomic and proteomic data, termed proteogenomics, has emerged as a new field revealing insights into gene expression regulation, cell signalling, and disease processes. However, the lack of software tools for high-throughput integration and unbiased modification and variant …
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Novel urinary and serological markers of prostate cancer using proteomics techniques: an important tool for early cancer diagnosis and treatment monitoring
… and immunotherapeutic antigen biomarkers. Proteogenomic functional pathway analyses of differentially expressed antigens showed similar enrichments of biologic processes. We identified herein novel urinary and blood-based potential diagnostic biomarkers and immunotherapeutic targets of PCa …
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A DE NOVO COMPUTATIONAL DISCOVERY PLATFORM FROM RNA TO PROTEIN
… detection, and proteome characterization using proteogenomic approaches. Furthermore, we devise computational strategies for the evaluation of de novo detection from RNA to protein. By using our pipeline, we characterize the effects of DUX4 activation in human skeletal muscle cells as a model …
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An interdisciplinary approach leveraging human genetic variation to identify novel mechanisms of liver disease and pregnancy sickness
… in human liver health. Next, large scale proteogenomic studies, biobanked samples from rare disease cohorts and cellular models were leveraged to provide insight into the causes and consequences of elevations in the poorly studied hepatokine Activin-C. Finally, in an examination of the …
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Using human genomics to decipher biological mechanisms underlying reproductive ageing and fertility in women
… and counselling. Chapter 5 presents the first proteogenomic study for the ANM targeting 4,775 distinct proteins measured from plasma samples of 10,713 European ancestry individuals in the Fenland study. Although this analysis did not identify robust protein candidates associated with ANM, it …