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Polygenic Risk Score Portability

Definition
AI-generated

Polygenic risk score portability describes how well a score trained in one population (base GWAS and LD reference) predicts in another ancestry or environment.

Topics
Post-GWAS
Related
Cross-Ancestry Genetic Correlation Cross-Population Effect Heterogeneity Exposome

Why it matters in GWAS

Scores optimized in European-ancestry GWAS often underperform in other groups; ancestry-matched LD panels, diverse base GWAS, recalibration, and explicit cross-ancestry evaluation are active standards discussed in PRS guidelines.

Example usage

"Results report Polygenic Risk Score Portability alongside confidence intervals to communicate effect magnitude in clinically interpretable terms."

Cross-Ancestry Genetic Correlation Cross-Population Effect Heterogeneity Exposome Admixture Mapping Ancestry Genetic Correlation Local Ancestry Multi-Ancestry Polygenic Score Polygenic Risk Score (PRS) Polygenic Score Catalog PRS Base Cohort PRS Target Cohort Principal Component Analysis (PCA) Trans-Ancestry GWAS
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Kachuri L, Chatterjee N, Hirbo J, et al. (2024). Principles and methods for transferring polygenic risk scores across global populations. Nat Rev Genet. https://doi.org/10.1038/s41576-023-00637-2
  • Choi SW, Mak TSH, O'Reilly PF. (2020). Tutorial: a guide to performing polygenic risk score analyses. Nat Protoc. https://doi.org/10.1038/s41596-020-0353-1
  • Duncan L, et al. (2019). Analysis of polygenic risk score usage and performance in diverse human populations. Nat Commun.
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