Article
Admixture-informed polygenic risk reporting using the ePRS framework.
Nature communications - 30 Apr 2026
Huang Yu-Jyun, Kurniansyah Nuzulul, Goodman Matthew O, Spitzer Brian W, Wang Jiongming, Stilp Adrienne, Laurie Cecelia, de Vries Paul S, Chen Han, Min Yuan-I, Sims Mario, Peloso Gina M, Guo Xiuqing, Bis Joshua C, Brody Jennifer A, Raffield Laura M, Smith Jennifer A, Zhao Wei, Rotter Jerome I, Rich Stephen S, Redline Susan, Fornage Myriam, Kaplan Robert, Franceschini Nora, Levy Daniel, Morrison Alanna C, Boerwinkle Eric, Smith Nicholas L, Kooperberg Charles, Psaty Bruce M, Zöllner Sebastian, Sofer Tamar
Abstract excerpt
Polygenic risk score values vary with genetic ancestry due to differences in population-specific allele frequencies and linkage disequilibrium patterns. We present a framework to calibrate polygenic risk scores based on ancestral makeup. We propose the "expected polygenic risk score" or ePRS, defined as the expected value of a polygenic risk score based on one's global or local admixture patterns. We further...
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