Comparison of rule- and large language model-based phenotype extraction from clinical notes for neurofibromatosis type 1.
Neurofibromatosis type 1 (NF1) is a rare genetic disorder affecting multiple organ systems with significant clinical heterogeneity. Managing individuals with NF1 is challenging due to variability in disease progression and outcomes and limited early risk assessment tools.
Author(s): Kaster, Levi, Hillis, Ethan, Oh, Inez Y, Cordell, Elizabeth C, Foraker, Randi E, Lai, Albert M, Morris, Stephanie M, Gutmann, David H, Payne, Philip R O, Gupta, Aditi
DOI: 10.1093/jamia/ocaf155