An artificial intelligence framework for end-to-end rare disease phenotyping from clinical notes using large language models
Phenotyping is fundamental to rare disease diagnosis, but manually curating structured phenotypes from clinical notes is labor intensive and difficult to scale. Existing artificial intelligence (AI) approaches optimize individual components of phenotyping but generally do not operationalize the full workflow of extract...
Cathy Shyr, Yan Hu, Rory J Tinker et al.
· npj Digital Medicine · 0 citations