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Heterozygote Excess

Definition
AI-generated

Heterozygote excess is the presence of more heterozygous genotypes than expected under Hardy-Weinberg equilibrium.

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

Why it matters in GWAS

Marked heterozygote excess at a variant can be a QC warning sign, especially when accompanied by poor clustering or platform-specific artifacts.

Example usage

"The SNP showed strong heterozygote excess and was removed during variant QC."

Hardy-Weinberg Equilibrium (HWE) Heterozygote Heterozygote Deficit Quality Control (QC)
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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.
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