Illumina has launched PromoterAI, an advanced AI algorithm that accurately deciphers pathogenic regulatory genetic variants in the noncoding regions of the human genome.
PromoterAI works by identifying regulatory variants in noncoding ‘promoter’ segments, potentially accounting for up to 6% of genetic causes of rare diseases.
It is the latest addition to Illumina’s genomic AI tools, and promises to transform data into actionable insights, expediting rare disease diagnosis breakthroughs.
The algorithm employs advanced deep learning neural networks to interpret promoter sequences, providing superior precision in interpreting promoter variants.
When applied to sequencing data, researchers can better comprehend the etiology and drug target potential for rare genetic diseases, common diseases, and oncology.
Illumina vice president and artificial intelligence lab head Kyle Farh said: “Illumina is breaking new ground with this AI technology.
“Combined with whole-genome sequencing, we believe PromoterAI holds the power to improve the rate of rare disease diagnosis by identifying previously overlooked variants in the noncoding genome.
“One of the challenges of searching for the genetic causes of rare disease is that, even if the protein-coding sequence of a gene is free from variants, mutations in that gene’s promoter region can prevent it from being properly expressed.”
PromoterAI is offered through Illumina Connected Software and is part of DRAGEN secondary analysis.
Precomputed PromoterAI scores for all human promoter single-nucleotide variants are freely accessible for academic and non-commercial research.
Illumina Connected Software easily integrates seamlessly with next-generation sequencing and array workflows.
It enables researchers, bioinformaticians, and clinical geneticists to prioritise variants, gain critical insights, and enhance precision medicine dry lab operations.
Illumina software and informatics global head and vice president Rami Mehio said: “PromoterAI is the latest addition to our AI and software portfolio, which has delivered leading quality, prediction accuracy, and comprehensiveness to turn data into valuable insights for our customers.”
