Novel AI Tool Not only Identifies Genetic Mutations but Also Predicts the Type of Disease

New AI model predicts which genetic mutations truly drive disease

Scientists at Mount Sinai have created an artificial intelligence system that can predict how likely rare genetic mutations are to actually cause disease. By combining machine learning with millions of electronic health records and routine lab tests like cholesterol or kidney function, the system produces "ML penetrance" scores that place genetic risk on a spectrum rather than a simple yes/no. Some variants once thought dangerous showed little r…

Novel AI tool not only identifies genetic mutations but also predicts the type of disease

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic mutations but also predicts the type of disease those mutations may trigger.

New AI Can Predict Which Diseases Your DNA Might Spark

Scientists at the Icahn School of Medicine at Mount Sinai have created a new artificial intelligence tool that can both find genetic mutations that cause disease and predict what kinds of illnesses those mutations are likely to lead to. The method, called V2P (Variant to Phenotype), is intended to speed up genetic testing and support [...]

New AI Tool Identifies Not Just Genetic Mutations, But the Diseases They May Cause

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic mutations but also predicts the type of disease those mutations may trigger. The method, called V2P (Variant to Phenotype), is designed to accelerate genetic diagnostics and aid in the discovery of new treatments for complex and rare diseases. The findings were reported in the December 15 …