GENPHIRE: Enhancing Disease Risk Prediction Using Large Language Model
Danwei Yao, Chang Liu, Shifan Yan, Jiayi Zhang, Yan V. Sun, Zhaohui Steve Qin
GENPHIRE uses a large language model to convert genotype profiles into embedded vectors for disease risk prediction, outperforming existing polygenic risk scores in UK Biobank data.
medRxiv · Dec 4, 2025 · PreprintGenetic & Genomic Medicine