A systematic mapping study of semantic technologies in multi-omics data integration

IF 4 2区医学 Q2 COMPUTER SCIENCE, INTERDISCIPLINARY APPLICATIONS

Journal of Biomedical Informatics Pub Date : 2025-03-26 DOI:10.1016/j.jbi.2025.104809

Giovanni Maria De Filippis, Domenico Amalfitano, Cristiano Russo, Cristian Tommasino, Antonio Maria Rinaldi

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引用次数: 0

Abstract

Objective:

The integration of multi-omics data is essential for understanding complex biological systems, providing insights beyond single-omics approaches. However, challenges related to data heterogeneity, standardization, and computational scalability persist. This study explores the interdisciplinary application of semantic technologies to enhance data integration, standardization, and analysis in multi-omics research.

Methods:

We performed a systematic mapping study assessing literature from 2014 to 2024, focusing on the utilization of ontologies, knowledge graphs, and graph-based methods for multi-omics integration.

Results:

Our findings indicate a growing number of publications in this field, predominantly appearing in high-impact journals. The deployment of semantic technologies has notably improved data visualization, querying, and management, thus enhancing gene and pathway discovery, and providing deeper disease insights and more accurate predictive modeling.

Conclusion:

The study underscores the significance of semantic technologies in overcoming multi-omics integration challenges. Future research should focus on integrating diverse data types, developing advanced computational tools, and incorporating AI and machine learning to foster personalized medicine applications.

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来源期刊

Journal of Biomedical Informatics 医学-计算机：跨学科应用

CiteScore

8.90

自引率

6.70%

发文量

243

审稿时长

32 days

期刊介绍： The Journal of Biomedical Informatics reflects a commitment to high-quality original research papers, reviews, and commentaries in the area of biomedical informatics methodology. Although we publish articles motivated by applications in the biomedical sciences (for example, clinical medicine, health care, population health, and translational bioinformatics), the journal emphasizes reports of new methodologies and techniques that have general applicability and that form the basis for the evolving science of biomedical informatics. Articles on medical devices; evaluations of implemented systems (including clinical trials of information technologies); or papers that provide insight into a biological process, a specific disease, or treatment options would generally be more suitable for publication in other venues. Papers on applications of signal processing and image analysis are often more suitable for biomedical engineering journals or other informatics journals, although we do publish papers that emphasize the information management and knowledge representation/modeling issues that arise in the storage and use of biological signals and images. System descriptions are welcome if they illustrate and substantiate the underlying methodology that is the principal focus of the report and an effort is made to address the generalizability and/or range of application of that methodology. Note also that, given the international nature of JBI, papers that deal with specific languages other than English, or with country-specific health systems or approaches, are acceptable for JBI only if they offer generalizable lessons that are relevant to the broad JBI readership, regardless of their country, language, culture, or health system.