The application of artificial intelligence (AI) in genomics holds tremendous promise, but it also presents significant challenges. The sheer volume and complexity of genomic data, combined with the nuances of genomic nomenclature and the need for high-quality, curated training datasets, make it challenging to develop AI models that can accurately and reliably interpret genomic information. Despite these challenges, the potential benefits of applying AI to genomic data are too great to ignore.
Developing a comprehensive, searchable knowledgebase of literature-derived clinically relevant genomic evidence is critical to this revolution. Leveraging advanced AI platforms and large language models to organize information including genes, genetic variants, copy number variants, structural variants including fusion events, gene-disease relationships, drugs, phenotypes, and patient demographics and symptoms into one searchable database can provide clinicians with real-time access to the latest genomic research and insights. This can help to accelerate diagnosis, reduce uncertainty, and improve the overall quality of care. In addition, insights from the knowledgebase can inform the development of precision therapeutics.
In this Exhibit Theater presentation at ACMG 2025, we share how Genomenon has approached this challenge and created the Genomenon Genomic Graph Knowledgebase (G3) - a comprehensive, AI-powered knowledgebase of clinically relevant genomic evidence. We explore how G3 will transform clinical diagnostics and enable precision medicine by providing real-time access to the most relevant genomic research and insights, revealing novel targets, and unlocking the potential of real-world data to inform trial and treatment decisions. We reveal progress to date to showcase how G3 can provide pivotal insight into patient diagnosis, care, and outcomes. We also discuss the various applications of G3, including how it can power AI-driven predictive models of unparalleled accuracy, breadth, and complexity for clinical diagnostics and drug development applications.
Ready to unlock the potential of real-world data to inform trial and treatment decisions? Discover how the Genomenon Genomic Graph Knowledgebase (G3) can provide pivotal insight into patient diagnosis, care, and outcomes.
