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Causality

Definition
AI-generated

Causality is the relation by which changes in one process or variable bring about, or help explain, changes in another—distinct from mere association.

Why it matters in GWAS

GWAS yields robust associations; interpreting them as causal risk mechanisms, drug targets, or mediators requires extra evidence (fine-mapping, functional assays, family designs, Mendelian randomization, or experiments). Conflating association with causation is a common source of misinterpretation in follow-up and reporting.

Example usage

"The review separated statistical evidence for a causal effect of the biomarker from biological causality at the locus, noting that the lead SNP could tag several correlated changes."

References

  • Pearl J. (2009). Causality: models, reasoning, and inference. Cambridge University Press.
  • Hernán MA, Robins JM. (2020). Causal inference: what if. Chapman & Hall/CRC.

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