Improving automated deep phenotyping through large language models using retrieval-augmented generation

Abstract Background Diagnosing rare genetic disorders relies on precise phenotypic and genotypic analysis, with the Human Phenotype Ontology (HPO) providing a standardized language for capturing clinical phenotypes. Rule-based HPO extraction tools use concept recognition to automatically identify ph...

Fuld beskrivelse

Bibliografiske detaljer

Principais autores:	Brandon T. Garcia, Lauren Westerfield, Priya Yelemali, Nikhita Gogate, E. Andres Rivera-Munoz, Haowei Du, Moez Dawood, Angad Jolly, James R. Lupski, Jennifer E. Posey
Format:	Artigo
Sprog:	Inglês
Udgivet:	BMC 2025-08-01
Serier:	Genome Medicine
Fag:	Large language models (LLMs) Retrieval-augmented generation (RAG) Phenotyping Human Phenotype Ontology (HPO) Natural language processing (NLP) Clinical genomics
Online adgang:	https://doi.org/10.1186/s13073-025-01521-w
Tags:	Tilføj Tag Ingen Tags, Vær først til at tagge denne postø!