Illumina Inc. announced on May 29, 2025, the unveiling of PromoterAI, a new AI algorithm designed to accurately decipher pathogenic regulatory genetic variants in the noncoding regions of the human genome. A study published in Science illustrates how this deep learning technology can contribute up to 6% of the genetic causes of rare diseases.
PromoterAI is expected to significantly improve the rate of rare disease diagnosis, as currently only about 30% of rare disease patients receive an accurate diagnosis from exome sequencing. The algorithm interprets genetic sequences of promoters, which are key noncoding elements that define where gene transcription begins, and whose disruption can have profound consequences for gene expression.
Built on state-of-the-art deep learning neural networks, PromoterAI brings unprecedented precision to the interpretation of promoter variants. It is accessible through Illumina Connected Software and is available as part of DRAGEN™ secondary analysis, empowering clinical researchers to better understand the etiology and drug target potential for rare genetic diseases, common diseases, and oncology.
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