Illumina Launches SpliceAI2 Model for Splice Variant Interpretation

Illumina introduced SpliceAI2 on October 8, 2026, a genomic AI model from its BioInsight AI Lab that predicts how genetic variants alter RNA splicing. Illumina said the model identified 17% more disease-relevant variants than other splicing models when applied to a rare disease research dataset. According to the company’s announcement, SpliceAI2 is designed to help researchers identify disease-relevant splice variants that might otherwise go unnoticed, with splice effect prediction key to resolving variants of uncertain significance in rare disease research, hereditary cancer testing research, and drug discovery.

The model joins PromoterAI and PrimateAI-3D in a suite of genomic AI models covering splice, promoter, and missense variant effect types, and Illumina said the three collectively now enable researchers to identify up to twice as many variants with predicted biological impact. Rami Mehio, senior vice president and general manager of BioInsight, described variant effect prediction tools such as SpliceAI2 as one of the BioInsight AI Lab’s key focus areas; the lab works on generating genomic and multiomic data, developing genomic AI models for variant effect prediction and prioritization, and training biological foundation…