Illumina Unveils AI Tool to Improve Rare Disease Diagnosis

When combined with existing AI tools, it has the potential to double diagnostic success rates for rare diseases, the company said.

Genomics leader Illumina, Inc. has announced the launch of PromoterAI, a new artificial intelligence tool designed to detect disease-causing mutations in noncoding promoter regions of the human genome, a segment often overlooked in clinical diagnostics.

Published in Science, the study highlights that PromoterAI could explain up to 6% of previously undiagnosed rare disease cases. 

When combined with existing AI tools, it has the potential to double diagnostic success rates for rare diseases, the company said.

“This opens new possibilities for patients who previously had no genetic answers,” said Dr Kyle Farh, head of Illumina’s AI Lab.

Unlike most diagnostics that focus on protein-coding regions, PromoterAI uses deep learning to analyze promoter sequences, crucial regulators of gene activity. 

The tool is the latest addition to Illumina’s AI portfolio, which includes SpliceAI and PrimateAI-3D, and integrates with its DRAGEN analysis platform.

PromoterAI is now available for academic research through Illumina Connected Software, offering precomputed scores to rapidly prioritize potentially harmful mutations in rare disease cases.

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