Illumina releases SpliceAI2, says model identifies 17% more disease-relevant splice variants in rare disease dataset
Bitget2026/10/08 13:16Illumina 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. Disclaimer: This news brief was created by Public Technologies (PUBT) using generative artificial intelligence. While PUBT strives to provide accurate and timely information, this AI-generated content is for informational purposes only and should not be interpreted as financial, investment, or legal advice. Illumina Inc. published the original content used to generate this news brief via PR Newswire (Ref. ID: LA66650) on October 08, 2026, and is solely responsible for the information contained therein.
- 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.
Disclaimer: The content of this article solely reflects the author's opinion and does not represent the platform in any capacity. This article is not intended to serve as a reference for making investment decisions.
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