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 8 of 8 for “"copy-number alteration"”.
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Identification of DNA Copy Number-Dependent Transcriptional Deregulation inHepatocellular Carcinoma (HCC)
… genomic profiles analysis, in which the genomic copy numbers and gene expression profiles are analyzed by the integrative way to define the chromosomal regions with both genomic copy number variation and concomitant transcriptional deregulation, is posited to provide a promising strategy to …
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Rational drug combinations to selectively target 9p21-deleted bladder cancer
… exposed by 9p21 loss in BLCA, the most common copy-number alteration in this tumor. Previous studies have investigated 9p21 loss across several cancer types and identified PRMT5 and MAT2A as synthetic lethal interactions in this context. Consequently, PRMT5 (MRTX1719) and MAT2A (AG270) …
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Genomic Characterization of Adolescent and Young Adult Cancers: Investigation of Ewing Sarcoma Susceptibility and Chornobyl Thyroid Tumors
… consequences of how the germline informs somatic alterations. We found that longer GGAA repeats residing at 6p25.1 could act as a <em>de novo</em>enhancer in the presence of EWSR1-FLI1 and confer an increase in EwS risk through enhanced binding affinity with EWSR1-FLI1 fusion protein and …
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Bioinformatics pipeline development for analyses of data generated by target capture-based Next-Generation Sequencing, to characterise mutations and the utility of using off-target sequences to detect genomic imbalances in Multiple Myeloma patients.
… especially regarding structural variant (SV)/copy number alteration (CNA) detection. This study aimed to exemplify target-capture Next-Generation Sequencing data utility in bioinformatics-mediated sequence variant/SV/CNA detection, using a 1,138-gene cancer gene panel (CGP)/Immunoglobulin …
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In vivo pool-based shRNA screens to identify modulators of disease progression in hematopoietic malignancies
… screens typically identify gain-of-function alterations in positive selection screens, shRNA screening approaches allow for the systematic interrogation of the impact of loss of function events across large gene sets. Using transplantable mouse models of E[mu]-myc lymphoma and Bcr-Abl driven …
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INSIGHTS INTO THE SELECTION AND FUNCTION OF COPY-NUMBER ALTERATIONS DURING CANCER EVOLUTION
… instability, including large- and small-scale alterations, such as copy-number alterations (CNAs) or single-nucleotide mutations, respectively. Those alterations play a critical role in tumor development, genetic diversity, and resistance to therapies. This thesis explores the selection and …
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Algorithms for analyzing complex structural variations in cancer genomes
Analysis of somatic alterations in cancer genomes has been accelerated through the rapid growth of the quantity, quality and depth of data generated by next-generation sequencing (NGS). Previously most of cancer genome studies were focusing on single nucleotide variations (SNVs), small insertions …
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Development and evaluation of methodologies for analysis of CTC and ctDNA in patients with ovarian carcinoma
… expressing CTCs. In Chapter 4, we performed copy number alteration (CNA) profiling on putative CTCs that were previously identified in Chapter 3. CNA were detected in both CK/EpCAM and vimentin positive CTCs. However, a proportion of cells expressing CK/EpCAM, PD-L1 and CD31 were found not to …