Min-Xin Guan

Oct 23, 2024 | nature.com | Yuxin Gu |Song Jiang |Ming Chen |Min-Xin Guan |Siqi Sun |Zhihong Liu | +1 more

AbstractWe 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 pathogenic mutations, and occur at different frequencies across tissue types.