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Enhancing breath-based diagnostics through eXplainable Artificial Intelligence
Andrea Lo Sasso1,2,3, Nicola Amoroso2,4, Domenico Diacono2
1Dipartimento Interuniversitario di Fisica "M. Merlin", Università degli Studi di Bari Aldo Moro, Bari, Italy.
Plos One
|June 26, 2026
Summary
Breath analysis shows promise for early disease detection, including lung cancer. Machine learning models identified key volatile organic compounds, advancing non-invasive diagnostics.
Area of Science:
- Biomedical Engineering
- Computational Biology
- Medical Diagnostics
Background:
- Breath analysis offers a non-invasive method to assess metabolic states via volatile organic compounds (VOCs).
- Early disease detection, particularly for lung cancer, remains a critical challenge in healthcare.
Purpose of the Study:
- To investigate the efficacy of breath analysis for early detection of lung cancer, respiratory, and gastrointestinal diseases.
- To implement and evaluate an artificial intelligence (AI) methodology for disease prediction using breath VOCs.
- To identify key VOCs and enhance model interpretability using eXplainable AI (XAI).
Main Methods:
- Utilized open-access datasets comprising breath analysis data.
- Applied AI models to predict diagnostic labels, incorporating strategies to handle class imbalance.
- Employed XAI techniques to analyze the influence of VOC abundances on model predictions.
Main Results:
- Successfully developed and evaluated AI models for disease prediction from breath samples.
- Identified specific VOCs as relevant biomarkers for different diseases across datasets.
- Demonstrated the utility of XAI in pinpointing influential VOCs and improving model transparency.
Conclusions:
- Breath analysis integrated with AI presents a robust framework for non-invasive disease diagnostics.
- The methodology highlights the potential for advancing clinical decision-making through personalized breath-based biomarkers.
- Further research is needed to address challenges in standardization, sensitivity, and sampling variability for clinical translation.
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