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Heterozygote

Definition
AI-generated

A heterozygote carries two different alleles at a diploid locus (e.g. reference and alternate).

Topics
Core genetics
Synonyms
Heterozygous (adjective form)
Related
Additive Genetic Model Allele Compound Heterozygote

Why it matters in GWAS

Most SNP GWAS use additive tests where the heterozygote effect is half the per-allele slope; low-quality calls disproportionately misclassify heterozygotes, affecting power and Hardy–Weinberg checks. Trio designs explicitly track transmission from heterozygous parents.

Example usage

"Genotype QC and interpretation explicitly accounted for Heterozygote status at candidate loci."

Additive Genetic Model Allele Compound Heterozygote Dominant Genetic Model Genotype Hemizygote Heterozygosity Heterozygote Deficit Heterozygote Excess Homozygote Phasing Transmission Disequilibrium Test (TDT) Zygosity
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References

← Heterozygosity Heterozygote advantage →

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