Illumina Launches PromoterAI to Decode Noncoding Rare Disease Variants
Illumina Inc. has introduced PromoterAI, a deep learning algorithm that identifies disease-causing regulatory variants in the noncoding regions of the human genome—specifically promoter regions. This innovation is poised to significantly improve rare disease diagnosis rates, especially where traditional exome sequencing falls short. The Diagnostic Challenge: Unseen Variants in Noncoding DNA 1. Current Limitations in Rare…
