Rare-variant risk scores complement common-variant polygenic scores for disease risk prediction and stratification
Menghan Qin, Bangsheng Wu, Liu Yang, Wei Cheng, Jianfeng Feng, Jintai Yu, Tian Ge, Weikang Gong
This paper develops rare-variant polygenic risk scores (rvPRSs) using whole-genome sequencing data from the UK Biobank, showing they improve disease risk stratification and biological interpretability beyond common-variant PRSs.
medRxiv · Jun 29, 2026 · PreprintGenetic & Genomic Medicine