
This episode is about a study titled "AI-Enhanced Sensemaking: Exploring the Design of a Generative AI-Based Assistant to Support Genetic Professionals," which investigates integrating generative AI to assist genetic experts in diagnosing rare diseases through whole genome sequencing (WGS) analysis. The research, conducted by collaborators from Microsoft Research, Drexel University, and the Broad Institute, identifies significant challenges faced by genetic professionals, such as information overload and difficulty prioritizing cases for reanalysis.