An artificial intelligence framework for end-to-end rare disease phenotyping from clinical notes using large language …
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 …
Cathy Shyr, Yan Hu, Rory J. Tinker, Thomas A. Cassini, Kevin W. Byram, Rizwan Hamid, Daniel V. Fabbri, Adam Wright, Josh F. Peterson, Lisa Bastarache, Hua Xu
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