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Variance Quantitative Trait Locus (varQTL)

Definition
AI-generated

A variance quantitative trait locus (varQTL or vQTL) is a genetic variant associated with variability of a molecular phenotype—such as gene expression heterogeneity across cells or individuals—rather than (or in addition to) its mean level.

Topics
Synonyms

Why it matters in GWAS

Single-cell data make cell-to-cell expression variance observable; genetic effects on noise or plasticity may relate to disease-relevant dynamic responses and can be missed by mean-only eQTL models.

Example usage

"The study reported a varQTL near the cytokine receptor that altered expression variance during T cell activation."

References

  • Sarkar AK, et al. (2019). Discovery and characterization of variance QTLs in human induced pluripotent stem cells. PLoS Genet.
  • Cuomo ASE, Nathan A, Raychaudhuri S, et al. (2023). Single-cell genomics meets human genetics. Nat Rev Genet. https://doi.org/10.1038/s41576-023-00599-5

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