A Knowledge Graph Framework for Dementia Research Data

Dementia disease research encompasses diverse data modalities, including advanced imaging, deep phenotyping, and multi-omics analysis. However, integrating these disparate data sources has historically posed a significant challenge, obstructing the unification and comprehensive analysis of collected...

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Detalhes bibliográficos
Autores: Timón Reina, Santiago, Kirsebom, Bjørn-Eivind, Fladby, Tormod, Rincón Zamorano, Mariano, Martínez Tomás, Rafael
Tipo de documento: artigo
Data de publicação:2023
País:España
Recursos:Universidad Nacional de Educación a Distancia
Repositório:e-spacio. Repositorio Institucional de la UNED
Idioma:inglês
OAI Identifier:oai:e-spacio.uned.es:20.500.14468/12468
Acesso em linha:https://hdl.handle.net/20.500.14468/12468
Access Level:Acceso aberto
Palavra-chave:knowledge graphs
ontologies
graph databases
data modeling
dementia
omics
Descrição
Resumo:Dementia disease research encompasses diverse data modalities, including advanced imaging, deep phenotyping, and multi-omics analysis. However, integrating these disparate data sources has historically posed a significant challenge, obstructing the unification and comprehensive analysis of collected information. In recent years, knowledge graphs have emerged as a powerful tool to address such integration issues by enabling the consolidation of heterogeneous data sources into a structured, interconnected network of knowledge. In this context, we introduce DemKG, an open-source framework designed to facilitate the construction of a knowledge graph integrating dementia research data, comprising three core components: a KG-builder that integrates diverse domain ontologies and data annotations, an extensions ontology providing necessary terms tailored for dementia research, and a versatile transformation module for incorporating study data. In contrast with other current solutions, our framework provides a stable foundation by leveraging established ontologies and community standards and simplifies study data integration while delivering solid ontology design patterns, broadening its usability. Furthermore, the modular approach of its components enhances flexibility and scalability. We showcase how DemKG might aid and improve multi-modal data investigations through a series of proof-of-concept scenarios focused on relevant Alzheimer’s disease biomarkers.