The expected polygenic risk score (ePRS) framework: an equitable metric for quantifying polygenetic risk via modeling of ancestral makeup
Yu-Jyun Huang,
Nuzulul Kurniansyah,
Matthew O Goodman
et al.
Abstract:Polygenic risk scores (PRSs) depend on genetic ancestry due to differences in allele frequencies between ancestral populations. This leads to implementation challenges in diverse populations. We propose a framework to calibrate PRS based on ancestral makeup. We define a metric called expected PRS (ePRS), the expected value of a PRS based on the global or local admixture patterns of an individual. We further define the residual PRS (rPRS), measuring the deviation of the PRS from the ePRS. Simulation studies con… Show more
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