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An evaluation of GPT models for phenotype concept recognition
Objective: 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.
Evaluating a dictionary of human phenotype terms focusing on rare diseases
In this paper we present results of an-notating gold standard corpus with a dictionary containing lexical variants for the Human Phenotype Ontology terms.
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