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Controls-Only HWE

Definition
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Controls-only HWE refers to testing Hardy-Weinberg equilibrium in controls rather than in the full sample or in cases.

Topics

Why it matters in GWAS

A real risk locus can deviate from HWE in cases because of association with disease status, so applying HWE filters to controls only reduces the chance of discarding true signals.

Example usage

"We filtered variants using controls-only HWE p values to avoid removing genuine case-associated loci."

References

  • Wigginton JE, Cutler DJ, Abecasis GR. (2005). A note on exact tests of Hardy-Weinberg equilibrium. Am J Hum Genet.

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