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Heterozygote Deficit

Definition
AI-generated

Heterozygote deficit is the presence of fewer heterozygous genotypes than expected under Hardy-Weinberg equilibrium.

Topics
Core genetics
Related
Hardy-Weinberg Equilibrium (HWE) Heterozygote Heterozygote Excess

Why it matters in GWAS

A heterozygote deficit can signal technical problems or biological structure, so it is often interpreted alongside HWE tests, inbreeding estimates, and ancestry information.

Example usage

"The variant showed a heterozygote deficit consistent with possible allele-calling error."

Hardy-Weinberg Equilibrium (HWE) Heterozygote Heterozygote Excess Inbreeding Coefficient (F) Wahlund Effect
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References

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

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