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Principal Component Analysis (PCA)

Definition
AI-generated

Principal component analysis finds orthogonal directions of maximum variance; in GWAS, PCA of genotypes (often after LD pruning and relatedness filtering) yields ancestry axes used as covariates or for visualizing population structure.

Why it matters in GWAS

Including leading principal components in regression reduces confounding from population stratification; PC-based QC also flags outliers and admixture.

Example usage

"Cross-cohort analyses modeled Principal Component Analysis (PCA) to improve transferability and reduce population-structure confounding."

References

  • Price AL, et al. (2006). Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet.
  • GWASTutorial: Sample PCA.

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