Article
SpliceTransformer predicts tissue-specific splicing linked to human diseases.
Nature communications - 23 Oct 2024
You Ningyuan, Liu Chang, Gu Yuxin, Wang Rong, Jia Hanying, Zhang Tianyun, Jiang Song, Shi Jinsong, Chen Ming, Guan Min-Xin, Sun Siqi, Pei Shanshan, Liu Zhihong, Shen Ning
Abstract excerpt
We present SpliceTransformer (SpTransformer), a deep-learning framework that predicts tissue-specific RNA splicing alterations linked to human diseases based on genomic sequence. SpTransformer outperforms all previous methods on splicing prediction. Application to approximately 1.3 million genetic variants in the ClinVar database reveals that splicing alterations account for 60% of intronic and synonymous...
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