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. On a rare disease dataset it identified 17% more disease-relevant variants than other splicing models and outperformed Google DeepMind's AlphaGenome across three independent benchmarks.

• SpliceAI2 was trained on 314,745 RNA-seq samples and over 46 million splice junctions
• The model processes 196,608 base pairs with roughly 13 million trainable parameters
• In 7,504 Genomics England probands it found 17% more disease-associated variants
• Validation drew on more than 627,000 genomes from gnomAD, TOPMed and UK Biobank