Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences
Chencheng Xu, Suying Bao, Ye Wang, Wenxing Li, Hao Chen, Yufeng Shen, Tao Jiang, Chaolin Zhang
DeltaSplice predicts splicing-altering mutations and alternative splicing from genomic sequences, outperforming existing methods and identifying disease-related variants in neurodevelopmental disorders.
Genome Research · Jul 1, 2024Peer-reviewedBioinformatics