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The Global ETD Search service is a free service for researchers
to find electronic theses and dissertations. This service is
provided by the
Networked Digital Library of Theses and Dissertations.
Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
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Showing 331 to 332 of 332 (0.02 seconds)| 331 |
Prioritizing Causative Genomic Variants by Integrating Molecular and Functional Annotations from Multiple Biomedical OntologiesAlthagafi, Azza Th. 20 July 2023 (has links)
Whole-exome and genome sequencing are widely used to diagnose individual patients. However, despite its success, this approach leaves many patients undiagnosed. This could be due to the need to discover more disease genes and variants or because disease phenotypes are novel and arise from a combination of variants of multiple known genes related to the disease. Recent rapid increases in available genomic, biomedical, and phenotypic data enable computational analyses, reducing the search space for disease-causing genes or variants and facilitating the prediction of causal variants. Therefore, artificial intelligence, data mining, machine learning, and deep learning are essential tools that have been used to identify biological interactions, including protein-protein interactions, gene-disease predictions, and variant--disease associations. Predicting these biological associations is a critical step in diagnosing patients with rare or complex diseases.
In recent years, computational methods have emerged to improve gene-disease prioritization by incorporating phenotype information. These methods evaluate a patient's phenotype against a database of gene-phenotype associations to identify the closest match. However, inadequate knowledge of phenotypes linked with specific genes in humans and model organisms limits the effectiveness of the prediction. Information about gene product functions and anatomical locations of gene expression is accessible for many genes and can be associated with phenotypes through ontologies and machine-learning models. Incorporating this information can enhance gene-disease prioritization methods and more accurately identify potential disease-causing genes.
This dissertation aims to address key limitations in gene-disease prediction and variant prioritization by developing computational methods that systematically relate human phenotypes that arise as a consequence of the loss or change of gene function to gene functions and anatomical and cellular locations of activity. To achieve this objective, this work focuses on crucial problems in the causative variant prioritization pipeline and presents novel computational methods that significantly improve prediction performance by leveraging large background knowledge data and integrating multiple techniques.
Therefore, this dissertation presents novel approaches that utilize graph-based machine-learning techniques to leverage biomedical ontologies and linked biological data as background knowledge graphs. The methods employ representation learning with knowledge graphs and introduce generic models that address computational problems in gene-disease associations and variant prioritization. I demonstrate that my approach is capable of compensating for incomplete information in public databases and efficiently integrating with other biomedical data for similar prediction tasks. Moreover, my methods outperform other relevant approaches that rely on manually crafted features and laborious pre-processing. I systematically evaluate our methods and illustrate their potential applications for data analytics in biomedicine. Finally, I demonstrate how our prediction tools can be used in the clinic to assist geneticists in decision-making. In summary, this dissertation contributes to the development of more effective methods for predicting disease-causing variants and advancing precision medicine.
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Streamlining Certification Management with Automation and Certification Retrieval : System development using ABP Framework, Angular, and MongoDB / Effektivisering av certifikathantering med automatisering och certifikathämtning : Systemutveckling med ABP Framework, Angular och MongoDBHassan, Nour Al Dine January 2024 (has links)
This thesis examines the certification management challenge faced by Integrity360. The decentralized approach, characterized by manual processes and disparate data sources, leads to inefficient tracking of certification status and study progress. The main objective of this project was to construct a system that automates data retrieval, ensures a complete audit, and increases security and privacy. Leveraging the ASP.NET Boilerplate (ABP) framework, Angular, and MongoDB, an efficient and scalable system was designed, developed, and built based on DDD (domain-driven design) principles for a modular and maintainable architecture. The implemented system automates data retrieval from the Credly API, tracks exam information, manages exam vouchers, and implements a credible authentication system with role-based access control. With the time limitations behind the full-scale implementation of all the planned features, such as a dashboard with aggregated charts and automatic report generation, the platform significantly increases the efficiency and precision of employee certification management. Future work will include these advanced functionalities and integrations with external platforms to improve the system and increase its impact on operations in Integrity360.
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