An evaluation of GPT models for phenotype concept recognition

Clinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field.

Citation:
Groza T, Caufield H, Gration D, Baynam G, Haendel MA, et al. An evaluation of GPT models for phenotype concept recognition. BMC Med Informatics Decis Mak. 2024;24(1)

Keywords:
Artificial intelligence; Generative pretrained transformer; Human Phenotype Ontology; Large language models; Phenotype concept recognition

Abstract:
Clinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field.