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 real-world impact, while others previously labeled uncertain revealed strong disease links.