Join us on Wednesday 11/18/26 from 2:30-3:30PM in Galapagos (75A-5-5001) at Broad and online at broad.io/L2CAM to share ideas and data with other investigators working on rare disease projects.

Topic: LLM-Assisted Reanalysis of Unsolved Rare Disease Genomes Increases Diagnostic Yield

Speaker: Catherine Brownstein

Geneticist, Boston Children’s Hospital

Abstract: In retrospective reanalysis, an explanation- first LLM applied to routine HPO terms and variant tables produced clinically relevant gains in diagnostic yield, surfaced overlooked pathogenic findings, and generated biologically grounded hypotheses. These results motivate prospective multicenter evaluation with predefined end points, calibration reporting, and comparator baselines.

—