The landscape of polygenic score prediction accuracy and transportability across the phenome in ancestrally diverse populations
Meng Hsuan LiniD, Christopher H. ArehartiD, Simon N K Walker, Nicholas Rafaels, Kristy CrooksiD, Matt FisheriD, Sameer ChavaniD, Harry SmithiD, Nikita Pozdeyev, Leslie A Lange, Milton PividoriiD, Jonathan A Shortt, Ryan M. LayeriD, Audrey E. HendricksiD, Sridharan RaghavaniD, Christopher R. GignouxiD
Abstract
Polygenic scores (PGS) are increasingly common in human genetics research, yet their performance and portability vary substantially across traits and populations. We systematically evaluate prediction accuracy and cross-ancestry portability for 3,994 published PGSs across the phenome in the ancestrally diverse CCPM biobank. We identify widespread trait-specific and cross-trait associations, demonstrating both the utility and breadth of existing polygenic predictors. However, predictive effects frequently differ across ancestry groups, highlighting persistent challenges for portability that threaten equity in downstream applications. We further find that accuracy and portability depend strongly on whether the PGS is continuous or thresholded. Finally, through hierarchical mixed modeling, we identify score-development, genome features, and cohort characteristics associated with improved PGS accuracy and portability. These results highlight key factors supporting future development of robust and portable scores for research and clinical translation.
02 /Specification & Classification
Click any tag to browse matching papers- Citations
- 0
- Organism
- Assay
- Research Focus
- Approach
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- High-resolution portability of 245 polygenic scores when derived and applied in the same cohort
F. Prive, H. Aschard, … B. J. Vilhjalmsson·The American Journal of Human GeneticsPeer-reviewed·Jan 1, 2022
- Three Open Questions in Polygenic Score Portability
Joyce Y. Wang, Neeka Lin, … Arbel Harpak·Nature CommunicationsPeer-reviewed·Jan 26, 2026
- Polygenic scoring accuracy varies across the genetic ancestry continuum in all human populations
Yi Ding, Kangcheng Hou, … Bogdan Paşaniuc·bioRxiv·Sep 28, 2022
- Variable prediction accuracy of polygenic scores within an ancestry group
Hakhamanesh Mostafavi, Arbel Harpak, … Molly Przeworski·eLifePeer-reviewed·Jan 30, 2020
- Dissecting the Predictive Accuracy of Polygenic Indexes for Behavioral Phenotypes Across Genetic Ancestries
Robel G. Alemu, Alexander S. Young, … Aysu Okbay·bioRxiv·Sep 11, 2025
- Theoretical and empirical quantification of the accuracy of polygenic scores in ancestry divergent populations
Ying Wang, Jing Guo, … Loïc Yengo·Nature CommunicationsPeer-reviewed·Jul 31, 2020