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Pathway to precision: machine learning and bioinformatics in diabetes gene expression studies.
Tahmineh Aldaghi1, Ashley Chrissan2, Jan Muzik1,3
1Institute of Biophysics and Informatics, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Journal of Diabetes and Metabolic Disorders
|December 22, 2025
Summary
Understanding diabetes pathogenesis is key. This review highlights bioinformatics and machine learning advances in diabetes research, focusing on biomarkers and molecular causes for personalized treatment.
Area of Science:
- Biomedical Informatics
- Genomics
- Metabolic Disorders
Background:
- Diabetes mellitus is a critical metabolic disorder requiring in-depth understanding of its pathogenic mechanisms.
- Identifying molecular causes of diabetes is essential, with biomarker analysis, machine learning, and bioinformatics playing crucial roles.
Purpose of the Study:
- To summarize current advancements in diabetes research.
- To highlight progress in bioinformatics, gene expression analysis, and machine learning applications for diabetes.
- To identify key techniques and applications in recent diabetes studies.
Main Methods:
- A systematic literature search was performed on Google Scholar, PubMed, and Scopus.
- Keywords included "diabetes," "biomarkers," "bioinformatics," and "machine learning."
- PRISMA guidelines were followed for article selection, focusing on open-access English articles published between 2020 and 2024, resulting in 96 selected studies.
Main Results:
- Microarrays were the predominant data acquisition technique (70 occurrences).
- KEGG pathway analysis was the most common bioinformatics method (84 instances), followed by LASSO (43) and PCA (47) for machine learning.
- Diagnostic applications (51) were more frequent than prognostic applications (45).
Conclusions:
- KEGG pathway analysis and microarray data are vital in current diabetes research.
- Underutilization of newer technologies like RNA-seq and single-cell RNA-seq was noted.
- Integrating advanced bioinformatics, machine learning, and clinical data is crucial for precision medicine and personalized diabetes treatment.

