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Article

Fine-tuning large language models for rare disease concept normalization.

Journal of the American Medical Informatics Association : JAMIA - 1 Sept 2024

Wang Andy, Liu Cong, Yang Jingye, Weng Chunhua

Abstract excerpt

OBJECTIVE: We aim to develop a novel method for rare disease concept normalization by fine-tuning Llama 2, an open-source large language model (LLM), using a domain-specific corpus sourced from the Human Phenotype Ontology (HPO). METHODS: We developed an in-house template-based script to generate two corpora for fine-tuning. The first (NAME) contains standardized HPO names, sourced from the HPO vocabularies,...

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Identifiers

PMID: 38829731
DOI: 10.1093/jamia/ocae133
PMCID: PMC11339522

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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