Microsoft designs AI assistant to diagnose rare genetic diseases
Microsoft Research, Drexel University, and the Broad Institute just detailed an AI assistant designed to support whole genome sequencing analysis. The tool synthesizes complex biomedical literature on gene variants and automatically flags unsolved patient cases when new evidence emerges. Why it matters: Fewer than 50% of rare disease cases get an initial diagnosis, and AI sensemaking could clear backlogs by keeping cold cases active.