Retrieval and visualization of rare disease’s information

• Autor(a) principal: Sequeira, Mariana Figueiredo
• Data de Publicação: 2022
• Tipo de documento: Dissertação
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10773/38713
• topic: Rare diseases; Data integration; Orphan disease databases; Semantic search

The increasing interest in finding drugs and treatments for rare diseases led to the creation of research studies and clinical trials which data and results have been stored in multiple, heterogeneous databases. The lack of data harmonisation, combined with the need to improve current medical knowledge, has encouraged the research community to create computational solutions to aggregate this information. Although these platforms try to respond to the same problem, they were normally developed for different purposes, increasing the task complexity for end-users when needing to search for gene-to-phenotype information (e.g. genes, mutations, symptoms, etc.). This project has the objective of building a rare disease data agglomeration platform capable of extracting information from multiple external data sources. This work had, as main motivation, the assumption that this type of platforms can have a significantly positive impact on the lives of patients with rare diseases and on the work of health professionals who support them on a daily basis.