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An overview of computational methods in single-cell transcriptomic cell type annotation

Tianhao Li, Zixuan Wang, Yuhang Liu, Sihan He, Quan Zou, Yongqing Zhang

2025Briefings in Bioinformatics15 citationsDOIOpen Access PDF

Abstract

The rapid accumulation of single-cell RNA sequencing data has provided unprecedented computational resources for cell type annotation, significantly advancing our understanding of cellular heterogeneity. Leveraging gene expression profiles derived from transcriptomic data, researchers can accurately infer cell types, sparking the development of numerous innovative annotation methods. These methods utilize a range of strategies, including marker genes, correlation-based matching, and supervised learning, to classify cell types. In this review, we systematically examine these annotation approaches based on transcriptomics-specific gene expression profiles and provide a comprehensive comparison and categorization of these methods. Furthermore, we focus on the main challenges in the annotation process, especially the long-tail distribution problem arising from data imbalance in rare cell types. We discuss the potential of deep learning techniques to address these issues and enhance model capability in recognizing novel cell types within an open-world framework.

Topics & Concepts

AnnotationComputer scienceCategorizationMatching (statistics)TranscriptomeComputational biologyGene AnnotationData typeFocus (optics)Cell typeArtificial intelligenceGeneCellGene expressionBiologyGenomeGeneticsStatisticsMathematicsPhysicsOpticsProgramming languageSingle-cell and spatial transcriptomicsExtracellular vesicles in diseaseCancer Genomics and Diagnostics
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