A generative AI system can now analyze blood cells with greater accuracy and confidence than human experts, detecting subtle signs of diseases like leukemia. It not only spots rare abnormalities but also recognizes its own uncertainty, making it a powerful support tool for clinicians.
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.