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 20 of 102 for “"cancer genome"”.
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Somatic retrotransposition in the cancer genome
Cancer is a complex disease of the genome exhibiting myriad somatic mutations, from single nucleotide changes to various chromosomal rearrangements. The technological advances of next-generation sequencing enable high-throughput identification and characterization of these events genome-wide using …
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Variation-aware algorithms for cancer genome analysis
… explore variation-aware algorithms for analyzing cancer genomes. The scientific community has extensively catalogued millions of mutations present in cancer cells. This information is rarely used during read alignment and variant calling because of a lack of algorithms for doing so. Rediscovering …
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Analysis of alterations in the human cancer genome
… regarding the contribution of aneuploidy to the cancer phenotype. In this thesis, we develop computational methods to infer the presence and specific patterns of aneuploidy across thousands of primary cancer tissue specimens. We then combine these inferences with clinical and genomic features of …
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Accurate Identification of Significant Aberrations in Cancer Genome: Implementation and Applications
… Alterations (CNAs) are common events in human cancers. Identifying CNAs and Significant Copy number Aberrations (SCAs) in cancer genomes is a critical task in searching for cancer-associated genes. Advanced genome profiling technologies, such as SNP array technology, facilitate copy number …
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Protein structural and functional consequences of missense mutations in the human cancer genome
… addressed, and it is particularly prevalent in cancer. The replication and repair mechanisms of tumour cells are defective, causing an extremely chaotic and messy mutational landscape, where the contribution of most variants to tumour progression cannot be quantified easily. There are some key …
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Algorithms for cancer genome data analysis - Learning techniques for ITH modeling and gene fusion classification
L'abstract è presente nell'allegato / the abstract is in the attachment
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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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Characterising the Role of the Calcium-dependent Citrullinating Enzyme Peptidyl Arginine Deiminase 2 in Ovarian Cancer
Epithelial ovarian cancer (EOC) represents the fifth most common cause of cancer mortality among women worldwide and accounts for the highest fatalities amongst gynaecological malignancies. The dysregulation of calcium-dependent peptidyl arginine deiminase 2 (PADI2) plays a key role in the …
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TOWARDS AN UNDERSTANDING OF GENETIC SELECTION IN BREAST CANCER
Cancer genomes accumulate chromosomal abnormalities and gene mutations but must maintain the ability to survive in vitro. We sought evidence in breast cancer that genetic selection acts to maintain tumour survival. Analysis of genomes from 243 breast tumours revealed 766 unstable and 812 stable …
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Identifying mutational landscape and inflammatory pathways associated with lung squamous premalignant lesion progression
Lung cancer is the leading cause of death among all cancer types, and a subtype of lung cancer known as lung squamous cell carcinoma (LUSC) is the second most predominant subtype accounting for ~30% of all lung cancer cases. Lung cancer is typically diagnosed at advanced stages, resulting in poor …
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Developing Bottom-Up, Integrated Omics Methodologies for Big Data Biomarker Discovery
… of next generation sequencing (NGS) and genome-wide association studies (GWAS) datasets. These data sets are often complex, poorly annotated or require complex domain knowledge to sensibly manage. These novel datasets provide a rare, multi-dimensional omics (proteomics, transcriptomics, …
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Dual Assembly Nanoparticles Achieve Sustained Silencing of Znf304: A Novel Transcription Factor For Β1 Integrin
<p>Ovarian cancer (OC) is a highly metastatic disease, but no effective strategies to this process currently are known. Here, an integrated computational analysis of The Cancer Genome Atlas ovarian cancer dataset coupled with experimental validation identified a novel zinc finger transcriptional …
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Genome Variation Across Cancers Scales With Tissue Stiffness--An Invasion-Mutation Mechanism
Analysis of published cancer genome sequencing data reveals that cancers arising in stiff tissues, such as lung and skin, exhibit more than 30-fold higher mutation rates than those arising in soft tissues, like marrow and brain. This scaling relationship suggests a possible mechanical source of …
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Investigation of HPV16-related genomic alterations in cervical squamous cell carcinoma
… papillomavirus genomic integration into the host genome on host gene expression in cervical squamous cell carcinoma (CSCC) tumors. The genomic analysis involved clinical and genomics data analysis using bioinformatics and statistical methods. The Cancer Genome Atlas Program (TCGA) resource was …
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Computational Tools and Resources for Pan-Cancer Analyses of Host-Microbe Interactions
… that interacts with the host to influence cancer development and progression, as well as affect response to anti-cancer therapies, suggesting opportunities for diagnostic and therapeutic approaches. Many microbe-microbe and host-microbe interactions relevant to cancer are expected to take …
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From genetics to disease: Algorithms to decode somatic mutations
… phenotypic relationships from population-scale genome sequencing. The methods are developed and applied in the context of two human diseases, autism spectrum disorder and cancer. First, we develop a suite of computational tools to detect somatic copy number variants that likely arose during …
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CancerSubtyper: A Web-Based Deep Learning Platform for Cancer Subtyping Through DNA Methylation Data
Cancer subtyping plays a critical role in understanding tumor heterogeneity, predicting patient outcomes, and guiding personalized therapies. While DNA methylation data offers an informative molecular source for subtyping, leveraging its signals across cohorts remains challenging due to high …
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Diverse Roles Of Nuclear Intermediate Filaments In Proliferating Cells
Embryonic tissues and cancer have in common the fact that they are both highly proliferative tissues rapidly moving through the cell cycle, as opposed to most other differentiated tissues in an adult. DNA damage can arrest some embryonic cells but genetic instability is a hallmark of cancer. This …
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Using Tumour Evolution to Understand the Epigenetic and Transcriptional Adaptations of Cancer to Host Immunity
… of immunoediting essential in informing cancer therapy and prevention. Previous work on immunoediting has largely focussed on neoantigen loss, but this thesis aimed to expand the immunoediting paradigm to incorporate transcriptomic and epigenetic changes in tumour cells. This thesis …
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Genome sequencing and phenotypic analysis of single cells in cancer
Relatively little is known about 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 …
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