Illumina unveils PromoterAI, a groundbreaking algorithm to accelerate insights for rare disease diagnosis

Core Insights - Illumina Inc. has launched PromoterAI, an AI algorithm designed to decipher pathogenic regulatory genetic variants in noncoding regions of the human genome, which is expected to enhance the diagnosis of rare diseases [1][2][5] - The study published in Science indicates that regulatory variants in noncoding "promoter" segments contribute up to 6% of the genetic causes of rare diseases [1][2] - Currently, only about 30% of rare disease patients receive accurate diagnoses from exome sequencing, highlighting the potential of PromoterAI to improve diagnostic rates by analyzing noncoding regions that comprise over 98% of the genome [3] Technology and Functionality - PromoterAI interprets the genetic sequence of promoters, which are crucial noncoding elements that initiate gene transcription, thereby facilitating precise diagnoses for patients with rare diseases [4][5] - The algorithm is built on advanced deep learning neural networks, providing unprecedented precision in interpreting promoter variants and aiding in understanding the etiology and drug target potential for various diseases [5][6] - PromoterAI is part of a suite of AI tools from Illumina, including SpliceAI and PrimateAI-3D, which together can double the diagnostic yield compared to using protein-truncating variants alone [6] Accessibility and Integration - PromoterAI is accessible through Illumina Connected Software and is available as part of DRAGEN™ secondary analysis, with precomputed scores for human promoter single-nucleotide variants available for academic and noncommercial research [8] - The software supports seamless integration with next-generation sequencing and array workflows, enabling researchers and clinical geneticists to prioritize important variants and gain critical insights [8]