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Homozygote

Definition
AI-generated

A homozygote carries two identical alleles at a diploid locushomozygous reference (two copies of the reference allele) or homozygous alternate (two copies of the same non-reference allele).

Topics
Synonyms

Why it matters in GWAS

Association models compare trait distributions across genotype classes; recessive tests contrast alternate homozygotes to all others, while standard additive tests treat dose 0, 1, 2 linearly. Homozygote calls are sensitive to QC (depth, allele balance) especially at rare variants.

Example usage

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

References

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