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Article

Pathogenicity prediction for noncanonical splice-altering variants based on multimodal feature fusion.

Briefings in bioinformatics - 4 May 2026

Li Xiaoyan, Peng Zhen, Zhao Yiran, Wang Shuhan, Zhou Xingpeng, Luo Xiongjian, Su Yansen, Zheng Chunhou, Xia Junfeng

Abstract excerpt

Splice-altering variants (SAVs) are the second most prevalent class of pathogenic genetic variants and are strongly associated with the occurrence and development of various diseases. However, current computational tools exhibit limited predictive capability beyond canonical GT-AG splice sites, making accurate assessment of noncanonical SAV pathogenicity a considerable challenge. To address this limitation, we...

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PMID: 42242678
DOI: 10.1093/bib/bbag291
PMCID: PMC13365626

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