Towards a unified framework for single-cell -omics-based disease prediction through AI

Abstract

Single-cell omics has emerged as a powerful tool for elucidating cellular heterogeneity in health and disease. Parallel advances in artificial intelligence (AI), particularly in pattern recognition, feature extraction and predictive modelling, now offer unprecedented opportunities to translate these insights into clinical applications. Here, we propose single-cell -omics-based Disease Predictor through AI (scDisPreAI), a unified framework that leverages AI to integrate single-cell -omics data, enabling robust disease and disease-stage prediction, alongside biomarker discovery. The foundation of scDisPreAI lies in assembling a large, standardised database spanning diverse diseases and multiple disease stages. Rigorous data preprocessing, including normalisation and batch effect correction, ensures that biological rather than technical variation drives downstream models. Machine learning pipelines or deep learning architectures can then be trained in a multi-task fashion, classifying both disease identity and disease stage. Crucially, interpretability techniques such as SHapley Additive exPlanations (SHAP) values or attention weights pinpoint the genes most influential for these predictions, highlighting biomarkers that may be shared across diseases or disease stages. By consolidating predictive modelling with interpretable biomarker identification, scDisPreAI may be deployed as a clinical decision assistant, flagging potential therapeutic targets for drug repurposing and guiding tailored treatments. In this editorial, we propose the technical and methodological roadmap for scDisPreAI and emphasises future directions, including the incorporation of multi-omics, standardised protocols and prospective clinical validation, to fully harness the transformative potential of single-cell AI in precision medicine.

Keywords

artificial intelligence / Clinical Decision Assistant / deep learning / disease prediction / drug repurposing / machine learning / medicine / single-cell -omics

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RIGHTS & PERMISSIONS

2025 The Author(s). Clinical and Translational Medicine published by John Wiley & Sons Australia, Ltd on behalf of Shanghai Institute of Clinical Bioinformatics.