Spliformer-V2 enables multi-tissue prediction and interpretation of splice-altering genetic variants
Tang Xuelin, Meiyu Shao, Helei Lei, Xingyu Ma, Jingyan Guo, Yifan Shen, Qihui Wu, Yi Dong, Yi Zeng, Aaron D. Gitler, Yelin Chen, Agessandro Abrahão, Lorne H. Zinman, Ekaterina A. Rogaeva, Yan Chen, , Ming Zhang
Spliformer-V2 predicts and interprets tissue-specific effects of splice-altering variants, identifying disease-relevant genes and therapeutic targets in ALS.
bioRxiv · Jun 28, 2025 · PreprintBioinformatics