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Article

Comprehensive review and assessment of multi-species splicing variant prediction: task-specific deep learning models and genomic foundation models.

Briefings in bioinformatics - 4 May 2026

Sun Yinuo, Wang Xiaoyu, Jia Yuheng, Imoto Seiya, Li Fuyi, Li Chen, Song Jiangning

Abstract excerpt

Alternative splicing generates transcriptomic and proteomic diversity essential for eukaryotic complexity, yet genetic variants disrupting the splicing code underlie numerous human diseases. Deep learning (DL) models and genomic foundation models (GFMs) have achieved outstanding accuracy for predicting splicing variant effects in humans. However, their transferability to non-human species remains poorly...

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PMID: 42323878
DOI: 10.1093/bib/bbag329
PMCID: PMC13283436

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