Illumina Launches SpliceAI2 Model for Splice Variant Interpretation

Illumina released SpliceAI2, an advanced genomic AI model that predicts RNA splicing changes caused by genetic variants, improving detection of disease-relevant splice variants by 17% over prior models. SpliceAI2, trained on a dataset 100 times larger than its predecessor, supports rare disease research, hereditary cancer testing, and drug discovery by interpreting variant effects from DNA sequences alone.