An artificial intelligence framework for end-to-end rare disease phenotyping from clinical notes using large language models

arXiv:2602.20324v1 Announce Type: new Abstract: Phenotyping is fundamental to rare disease diagnosis, but manual curation of structured phenotypes from clinical notes is labor-intensive and difficult to scale. Existing artificial intelligence approaches typically optimize individual components of phenotyping but do not operationalize the full clinical workflow of extracting features from clinical