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Instrumental Variable (IV)

Definition
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An instrumental variable is a variable associated with an exposure, independent of the unmeasured confounders of the exposure-outcome relationship, and affecting the outcome only through the exposure.

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Why it matters in GWAS

The instrumental-variable assumptions are the core identification conditions behind Mendelian randomization. Weak instruments, linkage disequilibrium, or horizontal pleiotropy can bias causal estimates even when the GWAS summary statistics themselves are well powered.

Example usage

"Instrumental Variable (IV) is referenced when translating statistical signals into biological context."

References

  • Davey Smith G, Ebrahim S. (2003). Mendelian randomization: can genetic epidemiology contribute to understanding environmental determinants of disease? Int J Epidemiol.
  • GWASTutorial: Mendelian randomization.

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