Illumina, Inc. (ILMN) Unveils AI Breakthrough for Rare Disease Diagnosis

Illumina, Inc. (NASDAQ:ILMN) has introduced PromoterAI, a breakthrough AI tool designed to detect disease-causing mutations in the noncoding promoter regions of the genome, areas often overlooked in clinical diagnostics. Featured in Science, the study shows PromoterAI could explain up to 6% of undiagnosed rare disease cases, potentially doubling diagnostic success when paired with existing AI tools.

A research facility with medical professionals surrounded by diagnostic equipment.

While most current diagnostics focus on protein-coding regions, PromoterAI analyzes promoter sequences, key regulators of gene activity, using deep learning. “This opens new possibilities for patients who previously had no genetic answers,” said Dr. Kyle Farh, head of Illumina, Inc. (NASDAQ:ILMN)’s AI Lab.

The tool joins Illumina, Inc. (NASDAQ:ILMN)’s AI portfolio, including SpliceAI and PrimateAI-3D, and integrates with its DRAGEN analysis system. It is freely available for academic research through Illumina Connected Software, offering precomputed scores to prioritize harmful mutations quickly.

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