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PromoterAI: A New Era in Diagnosing Rare Diseases

Illumina Inc., a leading name in genomics, has recently made a significant stride in the field of medical genetics with the launch of PromoterAI. This advanced AI algorithm specializes in identifying pathogenic regulatory genetic variants found in the noncoding regions of the human genome. For the first time, it enables researchers to decode these variants in a more efficient and accurate manner, promising to transform the landscape of rare disease diagnosis and research.

The Importance of Noncoding Regions

While the human genome comprises around 98% noncoding regions, these areas were often overlooked in the context of genetic analysis. Traditionally, about 30% of rare disease patients receive an accurate diagnosis based solely on exome sequencing, which analyzes only the coding part of the genes. PromoterAI enhances this process by focusing on noncoding regions, notably promoter segments, which play essential roles in controlling gene transcription. These promoter regions, when disrupted by genetic mutations, can hinder proper gene expression, leading to various health issues.

The Capabilities of PromoterAI

The newly unveiled algorithm has displayed impressive potential in accelerating the understanding of genetic disorders. PromoterAI utilizes state-of-the-art deep learning technology to analyze vast genomic datasets and-to draw conclusions from them. In a remarkable study published in Science, it identified regulatory variants that contribute to up to 6% of the genetic causes behind rare diseases. Such milestones exemplify how PromoterAI aids researchers in unearthing valuable insights that were previously obscured due to the focus on coding sequences alone.

Kyle Farh, MD, PhD, a pivotal figure at Illumina and head of the AI Lab, highlighted the algorithm's capacity to enhance the diagnostic rate for rare diseases remarkably. He asserted that even if a gene's coding sequence appears normal, mutations in its promoter region might still pose significant risks, inhibiting that gene’s proper functioning. This breakthrough signals a new frontier in genetic research, aiming to provide precision medicine to a broader patient population.

PromoterAI in Action

Integrated with whole-genome sequencing (WGS) data analysis, PromoterAI empowers clinical researchers to advance their investigations into rare genetic disorders and even common conditions and cancers. Its introduction marks an evolution in techniques aimed at decoding the pathway to effective therapies and interventions.

Illumina's previous innovations in the genomic AI landscape, such as SpliceAI and PrimateAI-3D, laid the groundwork for this development. When combined, these tools—including PromoterAI—have demonstrated the ability to double the diagnostic yield when compared to using merely the protein-truncating variants.

Accessibility and Future Prospects

PromoterAI has been made accessible through Illumina's Connected Software, allowing it to be seamlessly integrated into existing genomic workflows. This accessibility extends to precomputed PromoterAI scores for all human promoter single-nucleotide variants, available freely for academic and noncommercial research. This commitment to sharing valuable academic resources underscores Illumina's dedication to advancing genomic science.

Researchers, bioinformaticians, and clinical geneticists can now leverage PromoterAI to prioritize significant variants, glean critical insights, and enhance their precision medicine capabilities effectively. The incorporation of PromoterAI into genetic research can lead to accelerated discoveries, hastening the arrival of tailored therapies for patients suffering from rare diseases.

Conclusion

Illumina's PromoterAI heralds a promising future for genetic research and diagnostics by utilizing deep learning to tap into the often-neglected noncoding regions of the human genome. By providing clear insights and improving diagnostic accuracy, PromoterAI is set to revolutionize how rare diseases are identified and treated, exemplifying Illumina's relentless pursuit of innovation in human health.

About Illumina

Illumina focuses on unlocking the power of the genome to improve human health and is recognized as a global leader in DNA sequencing and array-based technologies. Their innovative solutions cater to a wide range of applications across life sciences, oncology, and various emerging markets. Stay connected with Illumina for further advancements in genomic technology.