Retrieval and visualization of rare disease’s information

Detalhes bibliográficos
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
Resumo: 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.
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spelling Retrieval and visualization of rare disease’s informationRare diseasesData integrationOrphan disease databasesSemantic searchThe 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.O crescente interesse em encontrar medicamentos e tratamentos para doenças raras levou a um aumento significativo do número de pesquisas e ensaios clínicos. Os resultados obtidos através destes estudos encontram-se armazenados em múltiplas bases de dados heterogéneas. A falta de normalização destes mesmos dados, aliada à necessidade de melhorar o conhecimento médico atual, tem incentivado a comunidade ciêntifica a criar soluções computacionais com o intuito de agregar estes dados em plataformas dedicadas à apresentação de dados relativos a doenças raras. Embora estas plataformas tentem dar resposta ao mesmo problema, cada uma foi desenvolvida com um propósito diferente, o que acaba por aumentar a complexidade sentida pelos utilizadores no momento de obter informações genéticas pertinentes no estudo de uma determinada doença rara (por exemplo, genes, mutações, sintomas, etc. ). Este projeto teve como objetivo construir uma plataforma de aglomeração de dados de doenças raras genéticas capaz de extrair informações de várias fontes de dados externas e de apresentar esses mesmos dados de forma centralizada. A principal motivação deste trabalho foi o pressuposto de que este tipo de plataformas pode ter um impacto significativamente positivo na vida dos doentes com doenças raras genéticas e no trabalho dos profissionais de saúde que os apoiam diariamente.2023-07-17T13:07:05Z2022-11-30T00:00:00Z2022-11-30info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisapplication/pdfhttp://hdl.handle.net/10773/38713engSequeira, Mariana Figueiredoinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-02-22T12:14:55Zoai:ria.ua.pt:10773/38713Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:08:50.674539Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Retrieval and visualization of rare disease’s information
title Retrieval and visualization of rare disease’s information
spellingShingle Retrieval and visualization of rare disease’s information
Sequeira, Mariana Figueiredo
Rare diseases
Data integration
Orphan disease databases
Semantic search
title_short Retrieval and visualization of rare disease’s information
title_full Retrieval and visualization of rare disease’s information
title_fullStr Retrieval and visualization of rare disease’s information
title_full_unstemmed Retrieval and visualization of rare disease’s information
title_sort Retrieval and visualization of rare disease’s information
author Sequeira, Mariana Figueiredo
author_facet Sequeira, Mariana Figueiredo
author_role author
dc.contributor.author.fl_str_mv Sequeira, Mariana Figueiredo
dc.subject.por.fl_str_mv Rare diseases
Data integration
Orphan disease databases
Semantic search
topic Rare diseases
Data integration
Orphan disease databases
Semantic search
description 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.
publishDate 2022
dc.date.none.fl_str_mv 2022-11-30T00:00:00Z
2022-11-30
2023-07-17T13:07:05Z
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