Illumina releases SpliceAI2, says model identifies 17% more disease-relevant splice variants in rare disease dataset

• Illumina introduced SpliceAI2, a genomic AI model aimed at improving interpretation of genetic variants that affect RNA splicing.
• Testing on a rare disease research dataset showed 17% more disease-relevant splice variants flagged versus other splicing models.
• Analyses using Genomics England cohorts supported the 17% uplift in disease-relevant splice variant identification versus alternative models.
• GTEx whole-genome and RNA data analysis showed 34% better splice-site usage quantification versus the next-best model.
• Illumina said its genomic AI suite can now identify up to 2x as many variants with predicted biological impact.

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