Illumina’s AI lab developed PromoterAI, a deep neural network that predicts deleterious mutations in gene promoters disrupting normal gene expression. By training on DNA sequence features influencing chromatin accessibility and transcription factor interactions, PromoterAI offers a powerful tool to uncover rare non-coding variants driving genetic diseases and cancer. This advancement addresses a critical gap in pinpointing pathogenic promoter variants, estimated to contribute to six percent of genetic disorders.