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 20 of 41 for “"epigenomics"”.
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Mammalian comparative genomics and epigenomics
The human genome sequence can be thought of as an instruction manual for our species, written and rewritten over more than a billion of years of evolution. Taking a complete inventory of our genome, dissecting its genes and their functional components, and elucidating how these genes are …
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Genomics and epigenomics using 2D nanopores
DNA methylation is an epigenetic modification caused by the addition of a methyl group to DNA and heavily involved in gene expression and regulation, thereby critical to the progression of diseases such as cancer. In this work we show that detection and localization of DNA methylation can be …
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Microfluidic platforms for Transcriptomics and Epigenomics
A cell, the building block of all life, stores a plethora of information in its genome, epigenome, and transcriptome which needs to be analyzed via various Omic studies. The heterogeneity in a seemingly similar group of cells is an important factor to consider and it could lead us to better …
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Deciphering genetic associations using genome-wide epigenomics approaches
Genetic mapping of the drivers of complex human phenotypes and disease through the genome-wide association study (GWAS) has identified thousands of causal genetic loci in the human population. However, genetic mapping approaches can often only reveal a particular causal locus, not the molecular …
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Computational epigenomics : gene regulation, comparative methodologies, and epigenetic patterns
One of the fundamental aims of biology is to determine what lies at the root of differences across individuals, species, diseases, and cell types. Furthermore, the sequencing of genomes has revolutionized the ways in which scientists can investigate biological processes and disease pathways; new …
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Insights into Neuroblastoma Initiation and Disease Progression Through integrative Genomics and Epigenomics
In this dissertation, we use integrative genomics to shed new insights into the molecular lesions and mechanisms that drive neuroblastoma. In Part 1, we use imputation and epigenetic profiling in order to identify the causal germline SNP that drives differential susceptibility to neuroblastoma at …
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Decentralized AI for Methylation Data with Applications to Precision Health
… made available by recently published pretrained epigenomics foundation models. This work seeks to advance the use of decentralized AI in epigenomics, with the ultimate goal of improving personalized healthcare while preserving patient privacy.
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Integration of Genome Scale Data for Identifying New Biomarkers in Colon Cancer: Integrated Analysis of Transcriptomics and Epigenomics Data from High Throughput Technologies in Order to Identifying New Biomarkers Genes for Personalised Targeted Therapies for Patients Suffering from Colon Cancer
Colorectal cancer is the third most common cancer and the leading cause of cancer deaths in Western industrialised countries. Despite recent advances in the screening, diagnosis, and treatment of colorectal cancer, an estimated 608,000 people die every year due to colon cancer. Our current …
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Characterizing non-coding hits in genome-wide association studies using epigenetic data
… difficult. In parallel, the ENCODE and Roadmap Epigenomics consortia have produced high resolution annotations of the genome which identify large portions with potential regulatory function. We develop methods to interpret genome-wide association studies using these annotations to generate …
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Identification of DNA Methylation Episignatures for Classification and Phenotype/Genotype Correlation in Mendelian Neurodevelopmental Disorders
… impact of the majority of genetic variation. Epigenomics mechanisms involve chemical modifications in DNA that involve a range of cellular mechanisms. DNA methylation is an epigenetic mechanism involving addition and removal of methyl groups to cytosine residues. These methylation signals form …
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A high-resolution study of the chromatin environment around regulatory elements
… We apply the tool to data from the NIH's Roadmap Epigenomics Project to analyze ChromSMS and to better understand the mechanisms behind the patterns we observe. We find that ChromSMS produces meaningful clusters that are different from each other at a statistically significant level. Using …
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Modeling transcriptomic dynamics and epigenomic conservation
… factors in this process. The contribution of epigenomics in gene regulatory network of ES cells is also becoming a major topic. We provide a comparative approach by utilizing epigenomic information together with gene expression from different species. A integration and visualization tool is …
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The use of massively parallel sequencing to study the virome, epigenome and genome of canine and feline cancers
… and included exploration in metagenomics, epigenomics and transcriptomics in canine and feline cancers. This research affirmed previous notions that papillomavirus is not a common cause of feline oral squamous cell carcinoma (FOSCC) and added to the understanding that it is not caused by …
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Computational dissection and prediction of cancer immunotherapy response
… and pathways. Next, we performed large-scale epigenomics profiling in two cohorts of immunotherapy patients, and we discovered a non-responder enhancer signature that is lost in responders. Many genes contained within this epigenetic signature are associated with immunotherapy resistance, and …
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Development of a framework for multiomic analysis in disease research
… Commonly known –omic terms include genomics, epigenomics, transcriptomics, proteomics and metabolomics. The potentials of multi-omic disease research is particularly promising for patients with rare diseases, which affect one in 17 people in the United Kingdom and have a genetic component in …
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Data-driven Mechanistic Modeling of 3D Human Genome
… states by taking one-dimensional genomics and epigenomics data as input and quantitatively learns interacting patterns between these states using experimental contact data. Once learned, the model is able to make de novo predictions of 3D chromatin structures at five-kilo-base resolution across …
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Biospectroscopy towards screening and diagnosis of cancer
… external cues. Related technologies, genomics, epigenomics, transcriptomics, proteomics, metabolomics and toponomics have been applied to investigate models of carcinogenesis to identify committing initiating events. Vibrational spectroscopy has the potential to play an integral role within …
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