Full text 2026

Machine learning approaches for biomarker discovery using single-cell RNA sequencing

Dewa G, Munier CML, Ballouz S, et al.

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Abstract

The application of single-cell RNA sequencing (scRNA-seq) for biomarker discovery promises unprecedented resolution in identifying potential biomarkers by capturing and analysing cellular heterogeneity. Traditionally, biomarker discovery efforts within single-cell transcriptomics have primarily relied on conventional statistical approaches, particularly through the application of differential gene expression analysis, to identify candidate biomarkers. However, in recent years, with the rapid advancement and growing popularity of artificial intelligence and machine learning, their application in scRNA-seq biomarker discovery has become increasingly prominent. Currently, machine learning-based approaches for scRNA-seq biomarker discovery exhibit considerable methodological diversity, which can be distinguished by factors such as the level of discovery, choice of supervised learning algorithm, feature selection methods, classification metrics, and downstream biological analyses. This review provides a comprehensive overview of the current landscape of machine learning methods for scRNA-seq biomarker discovery, offering researchers a complete and detailed understanding of the field.

Keywords

Artificial intelligence Biomarker Discovery Feature Selection Machine Learning Single-cell Rna Sequencing