New AI algorithm accurately deciphers pathogenic regulatory genetic variants in the noncoding regions of the human genome at scale for the first time

SAN DIEGO, May 29, 2025 /PRNewswire/ -- Illumina Inc. (NASDAQ:ILMN) today unveiled PromoterAI, a new AI algorithm that accurately deciphers pathogenic regulatory genetic variants in the noncoding regions of the human genome. A study published today in Science illustrates how this deep learning technology discovered regulatory variants in noncoding "promoter" segments that contribute up to 6% of the genetic causes of rare diseases. By turning data into insights, this technology is expected to help researchers accelerate new breakthroughs in diagnosis for rare diseases.

Currently, only about 30% of rare disease patients receive an accurate diagnosis from exome sequencing. For many patients, insights may be hidden in what are known as "noncoding regions," which comprise over 98% of the genome and may hold the key to increasing the diagnostic rate.

PromoterAI will be accessible through Illumina Connected Software and it is available today as part of DRAGEN™ secondary analysis. Precomputed PromoterAI scores for all human promoter single-nucleotide variants are freely available for academic and noncommercial research use. Illumina Connected Software supports seamless integration with next-generation sequencing and array workflows for genomics and multiomics. Researchers, bioinformaticians, and clinical geneticists can use Illumina Connected Software to prioritize variants that are important to a case, gain critical insights, and accelerate their precision medicine dry lab operations.