Genetic & Genomic MedicinemedRxivPreprint
Rare-variant risk scores complement common-variant polygenic scores for disease risk prediction and stratification
Menghan Qin, Bangsheng Wu, Liu Yang…·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.
DOI 10.64898/2026.06.21.26356150