Illumina releases SpliceAI2 for genetic variant research

Oct 8, 2026
SpliceAI2 predicts how genetic variants affect RNA splicing and identified 17% more disease relevant variants than competing models in a rare disease dataset.

Illumina introduced SpliceAI2 in a press release, describing the model as a tool for predicting how genetic variants affect RNA splicing. In a rare disease research dataset, the model identified 17% more disease relevant splice variants than alternative models.

SpliceAI2 was trained on a dataset 100 times larger than the dataset used for the original SpliceAI. Illumina said an analysis of matched whole genome and RNA sequencing data found that it improved measurements of splice site usage by 34% compared with the next best model.

The model joins PromoterAI and PrimateAI-3D in Illumina's genomic AI tools for assessing splice, promoter and missense variants. Researchers can access SpliceAI2 through the company's DRAGEN Annotation and Emedgene applications.

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