Illumina releases SpliceAI2, says model identifies 17% more disease-relevant splice variants
ILMN•Illumina introduced SpliceAI2, a genomic AI model for interpreting genetic variants that affect RNA splicing. In analyses using rare disease research data and Genomics England cohorts, it flagged 17% more disease-relevant splice variants than alternative models.
1. Model performance
Illumina said SpliceAI2 flagged 17% more disease-relevant splice variants than other splicing models in a rare disease research dataset, with analyses using Genomics England cohorts supporting the result. Analysis of GTEx whole-genome and RNA data showed 34% better splice-site usage quantification than the next-best model. Illumina also said its genomic AI suite can identify up to twice as many variants with predicted biological impact.
