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Hemizygote

Definition
AI-generated

A hemizygote has a single functional copy of a locus in diploid cells—classically males for most X chromosome sites (paired with Y or no second allele), regions deleted in copy-number aberrations, or haploid genomes (mitochondria, chloroplast proxies).

Topics
Core genetics
Related
Copy Number Variant (CNV) Genotype Haploid

Why it matters in GWAS

X chromosome GWAS and WGS CNV analysis need sex-aware and ploidy-aware models; standard autosomal additive encodings mis-specify hemizygous genotypes if not recoded. Some pipelines treat male X calls as haploid or apply dosage 0/1 only.

Example usage

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

Copy Number Variant (CNV) Genotype Haploid Heterozygote Homozygote Whole-Genome Sequencing (WGS) Zygosity
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References

  • Konig IR, et al. (2014). Sex-specific analysis in genome-wide association studies. Genet Epidemiol.
← Hazard Ratio (HR) Hemizygous →

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