An ontology-based approach for modelling and querying Alzheimer's disease data.

Alzheimer’s disease Interoperability Ontology Standardization

Journal

BMC medical informatics and decision making
ISSN: 1472-6947
Titre abrégé: BMC Med Inform Decis Mak
Pays: England
ID NLM: 101088682

Informations de publication

Date de publication:
08 08 2023
Historique:
received: 23 08 2022
accepted: 15 06 2023
medline: 10 8 2023
pubmed: 9 8 2023
entrez: 8 8 2023
Statut: epublish

Résumé

The recent advances in biotechnology and computer science have led to an ever-increasing availability of public biomedical data distributed in large databases worldwide. However, these data collections are far from being "standardized" so to be harmonized or even integrated, making it impossible to fully exploit the latest machine learning technologies for the analysis of data themselves. Hence, facing this huge flow of biomedical data is a challenging task for researchers and clinicians due to their complexity and high heterogeneity. This is the case of neurodegenerative diseases and the Alzheimer's Disease (AD) in whose context specialized data collections such as the one by the Alzheimer's Disease Neuroimaging Initiative (ADNI) are maintained. Ontologies are controlled vocabularies that allow the semantics of data and their relationships in a given domain to be represented. They are often exploited to aid knowledge and data management in healthcare research. Computational Ontologies are the result of the combination of data management systems and traditional ontologies. Our approach is i) to define a computational ontology representing a logic-based formal conceptual model of the ADNI data collection and ii) to provide a means for populating the ontology with the actual data in the Alzheimer Disease Neuroimaging Initiative (ADNI). These two components make it possible to semantically query the ADNI database in order to support data extraction in a more intuitive manner. We developed: i) a detailed computational ontology for clinical multimodal datasets from the ADNI repository in order to simplify the access to these data; ii) a means for populating this ontology with the actual ADNI data. Such computational ontology immediately makes it possible to facilitate complex queries to the ADNI files, obtaining new diagnostic knowledge about Alzheimer's disease. The proposed ontology will improve the access to the ADNI dataset, allowing queries to extract multivariate datasets to perform multidimensional and longitudinal statistical analyses. Moreover, the proposed ontology can be a candidate for supporting the design and implementation of new information systems for the collection and management of AD data and metadata, and for being a reference point for harmonizing or integrating data residing in different sources.

Sections du résumé

BACKGROUND
The recent advances in biotechnology and computer science have led to an ever-increasing availability of public biomedical data distributed in large databases worldwide. However, these data collections are far from being "standardized" so to be harmonized or even integrated, making it impossible to fully exploit the latest machine learning technologies for the analysis of data themselves. Hence, facing this huge flow of biomedical data is a challenging task for researchers and clinicians due to their complexity and high heterogeneity. This is the case of neurodegenerative diseases and the Alzheimer's Disease (AD) in whose context specialized data collections such as the one by the Alzheimer's Disease Neuroimaging Initiative (ADNI) are maintained.
METHODS
Ontologies are controlled vocabularies that allow the semantics of data and their relationships in a given domain to be represented. They are often exploited to aid knowledge and data management in healthcare research. Computational Ontologies are the result of the combination of data management systems and traditional ontologies. Our approach is i) to define a computational ontology representing a logic-based formal conceptual model of the ADNI data collection and ii) to provide a means for populating the ontology with the actual data in the Alzheimer Disease Neuroimaging Initiative (ADNI). These two components make it possible to semantically query the ADNI database in order to support data extraction in a more intuitive manner.
RESULTS
We developed: i) a detailed computational ontology for clinical multimodal datasets from the ADNI repository in order to simplify the access to these data; ii) a means for populating this ontology with the actual ADNI data. Such computational ontology immediately makes it possible to facilitate complex queries to the ADNI files, obtaining new diagnostic knowledge about Alzheimer's disease.
CONCLUSIONS
The proposed ontology will improve the access to the ADNI dataset, allowing queries to extract multivariate datasets to perform multidimensional and longitudinal statistical analyses. Moreover, the proposed ontology can be a candidate for supporting the design and implementation of new information systems for the collection and management of AD data and metadata, and for being a reference point for harmonizing or integrating data residing in different sources.

Identifiants

pubmed: 37553569
doi: 10.1186/s12911-023-02211-6
pii: 10.1186/s12911-023-02211-6
pmc: PMC10408169
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

Langues

eng

Sous-ensembles de citation

IM

Pagination

153

Subventions

Organisme : NIA NIH HHS
ID : U01 AG024904
Pays : United States

Informations de copyright

© 2023. BioMed Central Ltd., part of Springer Nature.

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Auteurs

Francesco Taglino (F)

Institute of Systems Analysis and Computer Science "Antonio Ruberti" (IASI), National Research Council (CNR), Via dei Taurini 19, 00185, Rome, Italy. francesco.taglino@iasi.cnr.it.

Fabio Cumbo (F)

Institute of Systems Analysis and Computer Science "Antonio Ruberti" (IASI), National Research Council (CNR), Via dei Taurini 19, 00185, Rome, Italy.
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, 9500 Euclid Avenue, 44195, Cleveland, Ohio, USA.

Giulia Antognoli (G)

Institute of Systems Analysis and Computer Science "Antonio Ruberti" (IASI), National Research Council (CNR), Via dei Taurini 19, 00185, Rome, Italy.

Ivan Arisi (I)

European Brain Research Institute (EBRI) "Rita Levi-Montalcini", Viale Regina Elena 295, 00161, Rome, Italy.

Mara D'Onofrio (M)

European Brain Research Institute (EBRI) "Rita Levi-Montalcini", Viale Regina Elena 295, 00161, Rome, Italy.

Federico Perazzoni (F)

Department of Engineering, Uninettuno International University, Corso Vittorio Emanuele II 39, 00186, Rome, Italy.

Roger Voyat (R)

Department of Engineering, University of Roma Tre, Via della Vasca Navale 79/81, 00146, Rome, Italy.

Giulia Fiscon (G)

Department of Computer, Control, and Management Engineering "Antonio Ruberti", Sapienza University of Rome, Via Ariosto 25, 00185, Rome, Italy.

Federica Conte (F)

Institute of Systems Analysis and Computer Science "Antonio Ruberti" (IASI), National Research Council (CNR), Via dei Taurini 19, 00185, Rome, Italy.

Marco Canevelli (M)

Department of Human Neuroscience, Sapienza University of Rome, Via Ariosto 25, 00185, Rome, Italy.

Giuseppe Bruno (G)

Department of Human Neuroscience, Sapienza University of Rome, Via Ariosto 25, 00185, Rome, Italy.

Patrizia Mecocci (P)

Department of Medicine and Surgery, University of Perugia, Piazzale Gambuli 1, 06129, Perugia, Italy.
Division of Clinical Geriatrics, NVS Department, Karolinska Institutet, Nobels väg 5, Solna, 17177, Stockholm, Sweden.

Paola Bertolazzi (P)

Institute of Systems Analysis and Computer Science "Antonio Ruberti" (IASI), National Research Council (CNR), Via dei Taurini 19, 00185, Rome, Italy.

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