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Zygosity

Definition
AI-generated

Zygosity describes whether an individual’s two copies at a locus are the same (homozygosity) or different (heterozygosity), or whether only one copy is present (hemizygosity).

Topics

Why it matters in GWAS

Correct zygosity calls underpin genotype dose, HWE checks, and dominance/recessive models; global outlier heterozygosity flags sample problems (contamination, swaps, inbreeding).

Example usage

"Per-SNP zygosity counts feed the exact HWE test; sample-level zygosity rate flagged two outliers."

References

Last updated (UTC · Git history)