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Single-Cell Expression Quantitative Trait Locus (sc-eQTL)

Definition
AI-generated

A single-cell eQTL (sc-eQTL) is a genetic variant associated with gene expression measured at single-cell resolution, often mapped within a defined cell type, cluster, or continuous cell state rather than in bulk tissue homogenate.

Topics
Single-cell analysis
Synonyms
sc-eQTL
Related
RNA Velocity Cell-Type Annotation Expression Quantitative Trait Locus (eQTL)

Why it matters in GWAS

Bulk eQTLs can miss the cell context where a regulatory variant acts; sc-eQTL maps help connect GWAS loci to effector cell types and dynamic programs (e.g. immune activation, differentiation), complementing resources such as GTEx.

Example usage

"The autoimmune risk allele showed a monocyte-specific cis sc-eQTL absent in bulk whole-blood eQTL catalogs."

RNA Velocity Cell-Type Annotation Expression Quantitative Trait Locus (eQTL) Genetic Demultiplexing Genotype-Tissue Expression (GTEx) Human Cell Atlas Pseudobulk Pseudotime Response eQTL Trajectory Inference RNA Sequencing (RNA-seq) Single-Cell Sequencing Transcriptome-Wide Association Study (TWAS)
Related-term network

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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

  • 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
  • van der Wijst MGP, et al. (2018). Single-cell RNA sequencing identifies cell type-specific cis-eQTLs and co-expression QTLs. Nat Genet.
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