Illumina Introduces PromoterAI for Rare Disease Diagnosis

Illumina has introduced PromoterAI, a new AI algorithm aimed at improving the diagnosis of rare diseases by identifying pathogenic regulatory genetic variants in the noncoding regions of the human genome. Announced in a press release, this technology is featured in a study published in Science, which highlights its ability to discover regulatory variants in noncoding 'promoter' segments that contribute to genetic causes of rare diseases.

PromoterAI leverages deep learning to interpret promoter variants, which are crucial noncoding elements that influence gene transcription. By applying this algorithm to whole-genome sequencing data, researchers can gain insights into the etiology of rare genetic diseases, potentially increasing diagnostic rates beyond the current 30% achieved through exome sequencing.

The algorithm is part of Illumina's AI and software portfolio and is accessible through Illumina Connected Software. It is available for academic and noncommercial research use, providing precomputed scores for human promoter single-nucleotide variants. This innovation follows previous AI tools from Illumina, such as SpliceAI and PrimateAI-3D, which together enhance diagnostic yields by identifying overlooked genetic variants.