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• This review explores the intricate relationship between gene fusions and prevalent tumors, comprehensively reviewing techniques for gene fusion testing.
• It evaluates the strengths and limitations of key assays like fluorescence in situ hybridization, polymerase chain reaction, and next-generation sequencing, and explores the emerging use of electrochemiluminescence for high-sensitivity gene fusion detection.
• It emphasizes the diagnostic accuracy of bioinformatics tools such as STAR-Fusion, FusionCatcher, Arriba, and underscores the transformative role of artificial intelligence, particularly deep learning technologies, in revolutionizing gene fusion research.
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