Illumina releases SpliceAI2 to help advance rare disease research
PR Newswire•08/10/2026•09:15 ET
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Key Highlights
- ➤SpliceAI2 identified 17% more disease-relevant variants than other splicing models.
- ➤SpliceAI2 improved splice-site usage quantification by 34% versus the next-best model.
- ➤Illumina’s genomic AI models can identify up to twice as many impactful variants.
- ➤SpliceAI2 trained on a dataset 100 times larger than the original model.
- ➤SpliceAI2 now available through Illumina’s BioInsight applications.
Expert Statements
Rami Mehio, Senior vice president and general manager of BioInsight at Illumina
“Variant effect prediction tools, such as SpliceAI2, are among the key areas of focus for the BioInsight AI Lab”
Rami Mehio, Senior vice president and general manager of BioInsight at Illumina
“As researchers work to elucidate the effect of mutations, we are uniquely positioned to unite genomic data and scientific expertise at scale, delivering the AI tools that can advance discovery and human health.”
Kyle Farh, Vice president of Illumina's BioInsight AI Lab
“Illumina is advancing AI to systematically shrink the portion of the genome that remains uninterpretable,”
Kyle Farh, Vice president of Illumina's BioInsight AI Lab
“Genomics has driven some of the most consequential genetic disease breakthroughs of the past two decades. Today, we are equipping researchers with the next generation of technology to help understand the underlying causes of disease.”
Illumina releases SpliceAI2 to help advance rare disease research PR Newswire
In a rare disease research dataset, SpliceAI2 identified 17% more disease-relevant variants compared to other splicing models
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