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Heterozygosity

Definition
AI-generated

Heterozygosity is the presence, or expected rate, of two different alleles at a locus within an individual or population.

Topics
Core genetics
Related
Contamination Genotype Heterozygote

Why it matters in GWAS

Unusually high or low heterozygosity can indicate contamination, inbreeding, sample swaps, or technical problems, so it is commonly used as a sample QC check.

Example usage

"Samples outside the heterozygosity mean plus or minus 3 SD were flagged for manual review."

Contamination Genotype Heterozygote Homozygote Hardy-Weinberg Equilibrium (HWE) Inbreeding Coefficient (F) Quality Control (QC) Zygosity
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Anderson CA, et al. (2010). Data quality control in genetic case-control association studies. Nat Protoc.
← Heterosis Heterozygote →

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