Can large language models reliably extract human disease genes from full-text scientific literature?
Danqing Yin, Matthew Ka Siu Leung, Darren Wan Ho Pun, Fiona Haixin Chen, Julie Yujin Kwon, Xinyi Lin, Joshua W. K. Ho
This paper benchmarks three LLMs for extracting gene-disease-phenotype relationships from biomedical texts, finding GPT-4o achieves 88.8% accuracy using zero-shot prompting.
bioRxiv · Jul 27, 2025 · PreprintBioinformatics