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Monoallelic

Definition
AI-generated

Monoallelic describes a locus or gene where only one allele contributes the observed signal in a given context—most often monoallelic expression, where one parental allele is silenced or lowly expressed (e.g. imprinting, random X-chromosome inactivation), or a cell carries a single expressed copy after loss of heterozygosity or in a hemizygous region.

Topics
Core genetics
Related
Allele Expression Quantitative Trait Locus (eQTL) Genotype

Why it matters in GWAS

Bulk-tissue eQTL and ASE analyses can be driven by monoallelic expression; ignoring allelic imbalance or sex-chromosome ploidy can bias dosage models. Rare-variant and gene-based tests may interpret apparently homozygous calls that reflect hemizygosity or technical dropout.

Example usage

"We filtered scRNA-seq cells for high-quality SNPs and tested monoallelic expression against parental phasing before eQTL mapping."

Allele Expression Quantitative Trait Locus (eQTL) Genotype Hemizygote Heterozygote Homozygote Zygosity
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References

  • Gimelbrant A, Hutchinson JN, Thompson BR, Chess A. (2007). Widespread monoallelic expression on human autosomes. Science. https://doi.org/10.1126/science.1138910
  • GTEx Consortium. (2020). The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science.
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