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Trans-Ancestry GWAS

Definition
AI-generated

Trans-ancestry GWAS combines or compares association evidence across multiple ancestry groups, aiming to improve discovery in underrepresented populations, characterize effect heterogeneity, and support more equitable transfer of polygenic scores when appropriate harmonization and analysis models are used.

Topics

Why it matters in GWAS

Most large GWAS have been European-ancestry–dominant; multi-ancestry meta-analysis and ancestry-aware modeling address portability limits, LD differences, and allele frequency spectrum variation across groups.

Example usage

"Trans-Ancestry GWAS was modeled explicitly to reduce confounding and improve cross-cohort portability."

References

  • Kuchenbaecker K, Navoly G. (2026). Ancestral diversity in complex disease genetics: from discovery to translation. Nat Rev Genet. https://doi.org/10.1038/s41576-025-00921-3
  • 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
  • Peterson RE, et al. (2019). Genome-wide association studies in ancestrally diverse populations: opportunities, methods, pitfalls, and recommendations. Cell.
  • Uffelmann E, et al. (2021). Genome-wide association studies. Nat Rev Methods Primers. https://doi.org/10.1038/s43586-021-00056-9

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