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Ancestry

Definition
AI-generated

Genetic ancestry describes the proportion of an individual’s genome inherited from specified source populations (e.g. European, African, East Asian) or along continuous axes of variation.

Why it matters in GWAS

Ancestry correlates with allele frequencies and environment; mismatch or uncorrected stratification biases associations, while ancestry-aware analyses improve portability of polygenic scores across groups.

Example usage

"We restricted to individuals with >90% European ancestry by projection onto 1KG references."

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
  • Price AL, Zaitlen NA, Reich D, Patterson N. (2015). New approaches to population stratification in genome-wide association studies. Nat Rev Genet.

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