Improving Automated Deep Phenotyping Through Large Language Models Using Retrieval Augmented Generation
Brandon T. Garcia, Lauren E. Westerfield, Priya Yelemali, Nikhita Gogate, E. Andres Rivera-Munoz, Haowei Du, Moez Dawood, Angad Jolly, James R. Lupski, Jennifer Ellen Posey
RAG-HPO improves HPO term assignment using retrieval-augmented generation, achieving higher precision and recall than existing tools in phenotypic analysis of clinical text.
Genome Medicine · Aug 18, 2025Peer-reviewedGenetic & Genomic Medicine