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Colocalization

Definition
AI-generated

Colocalization tests whether two association signals (e.g. a GWAS trait and an eQTL in the same region) plausibly share the same causal variant, often by comparing posterior probabilities over causal configurations in a locus (e.g. coloc, eCAVIAR).

Topics

Why it matters in GWAS

Strong colocalization supports sharing of molecular mechanism between a trait and gene regulation, prioritizing genes at GWAS loci for follow-up.

Example usage

"Colocalization analysis supported a shared causal signal between the GWAS locus and the cis-eQTL peak."

References

  • Giambartolomei C, et al. (2014). Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. PLoS Genet.
  • GWASTutorial: Colocalization.

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