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Open access Aug 2026

Benchmarking commercial large language models for gene-disease-phenotype extraction from full-text human genetics literature

Manual curation of gene-disease-phenotype relationships from the human genetics literature is a persistent bottleneck for maintaining its bioinformatics databases. Whereas large language models (LLMs) offer a promising alternative, there is currently no systematic benchmark that evaluates whether state-of-the-art comme...

Dan-Qing Yin, M. Leung, Darren Wan Ho Pun et al. · 0 citations
Open access Aug 2026

Ability of Large Language Models to Answer Patients’ Questions and Generate Educational Materials for Uncommon Retinal Conditions

Purpose: To assess the ability of large language models to accurately and comprehensively respond to frequently asked questions and generate patient education materials related to uncommon retinal conditions. Methods: A total of 50 frequently asked questions related to 10 uncommon retinal conditions were input into 3 l...

Samuel A. Cohen, P. Tailor, Adrian C Au et al. · 0 citations

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