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 18 of 18 for “"genomic medicine"”.
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Exploring genomic medicine using integrative biology
… and neuropathy; to study diabetes in genomic medicine would require reasoning from a disease to all its various complications to the genome and back. I am studying the process of intersecting nearly-comprehensive data sets in molecular biology, across three representative modalities …
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Enhancing Inclusion of the British Pakistani Population in Genomic Research and Genomic Medicine: Development of a Competence Framework
… Leeds Teaching Hospitals NHS Trust.<br/><br/>Genomic knowledge and technology has developed rapidly over the last decade and increased our capabilities to diagnose rare diseases and offer precision medicine. The advent of exome and genome sequencing studies has allowed the identification of …
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ATTITUDES OF GHANAIAN PEOPLE TOWARDS GENOMICS AND SHARING GENOMIC DATA
Advances in genomic sequencing technologies and massive investments in this area have enabled improvements in disease diagnosis, treatment and personalised care. There is more genetic diversity among people across the continent of Africa than across the combined population of the rest of the world. …
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User-Centered Design of a Collaborative Genetic Variant Interpretation Tool
Precision genomic medicine relies upon accurate variant knowledge. However, laboratories continue to arrive at discordant interpretations for the same genomic test. Gaps, inconsistencies, and siloing of variant knowledge may contribute to inter-rater discordance in variant interpretation. Our …
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Operations capability improvement of a molecular biology laboratory in a high throughput genome sequencing center
… scientific mission is to "(1) create tools for genomic medicine and make them broadly available to the scientific community and (2) apply these tools to propel the understanding and treatment of disease." The Broad Institute contains the world's largest high throughput genome sequencing center, …
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Genome data analysis, protein function and structure prediction by machine learning techniques
… of life, and has a lot of applications, such as genomic medicine, drug design, and etc. In the meantime, machine learning techniques are growing rapidly and are good at processing large datasets, but many of them are limited for the impact on larger real world problems. In this thesis, three …
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Systematically and proactively testing variant effects for AIRE and SOD1
Despite the potential for personalized genomic medicine, clinical geneticists are often unable to determine the pathogenicity of rare variants in disease-associated genes. Under current guidelines, one of the strongest forms of evidence for variant annotation comes from (often cell-based) …
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Deep learning of regulatory sequence variation in Pulmonary Arterial Hypertension
… with PAH, unlocking the non-coding space for genomic medicine.
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Development of a framework for multiomic analysis in disease research
… into disease. 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 …
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Insights into the genomic histories of diverse human populations using whole-genome sequencing analysis.
… the progress in sampling many populations, human genomics research is still not fully reflective of the diversity found globally. Understudied populations limit our knowledge of genetic variation and population history, and their inclusion is needed to ensure they benefit from future developments …
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Stargardt patient experiences in the first gene-based clinical trial for an inherited retinal condition in South Africa
… of patients with medical advances in genomic medicine and genetic counselling. Furthermore, participants offered recommendations for future clinical trials and valuable insights for ongoing research.
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Assessing Genetics Providers' Perspectives of and Experiences with DTC Genetic Testing: Creation of an Educational Module
… medical genetics field towards more encompassing genomic medicine and the implementation of personalized medicine. This "at home" type of genetic testing can be ordered from the Internet and mailed for analysis without the involvement of healthcare professionals. These tests indicate certain DNA …
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Multi-omics approaches for diagnosis, prognosis and response to treatment of colorectal cancer.
… of large databases to capture and store the genomic landscape of patients with CRC, provides information on the genes that are frequently deregulated in CRC. Moreover, the possibility of using gene-expression profiling and highly sensitive next-generation sequencing analyses to differentiate …
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Matryoshka genetics: identification of disease-associated mutations in the human genome
… genome, specifically in the context of clinical medicine. It is principally a publication-based thesis, with each of the chapters focusing on the use of a specific molecular technique or combination of techniques to address a particular clinical question, or clinical need. Indeed clinical need is …
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Accurate Mutation Annotation and Functional Prediction Enhance The Applicability of -Omics Data In Precision Medicine
… to enhance the capability of precision cancer medicine. Following this motivation, my dissertation has been focused on two important topics in translational genomics.</p> <p>1) Developing a computational approach to resolve ambiguities in existing clinical genomic annotations and to facilitate …
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Deconvoluting genetic variants associated with aortic disease using stem cell models
… technologies. However, a critical challenge in genomic medicine is determining which variants identified by whole genome sequencing are causal for disease. Identifying causal variants aids disease diagnosis, prognostication, and determination of cascade screening requirements. This study aimed …
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Exploring the Experiences and Perceptions of Individuals who have Completed the Discovery Health Family History Tool, and how the Personalised Report has Impacted their Lives
… the Human Genome Project in 2003, the focus of genomic medicine has expanded to include the more common chronic diseases which are now understood to be multifactorial in origin. These diseases show strong familial clustering, as family members share both genetic and non-genetic risk factors, and …
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Elucidating the constitutional genetic basis of multiple primary tumours
Cancer predisposition syndromes are responsible for a significant minority of neoplasm occurrences and beget opportunities to mitigate the associated risks with clinical intervention. They are caused by constitutional genetic variation affecting tumour suppressor genes or proto-oncogenes and recent …