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Cell-Type Annotation

Definition
AI-generated

Cell-type annotation is the process of assigning biologically meaningful labels to clusters or neighborhoods in single-cell data—manually from marker genes, or computationally by reference mapping, label transfer, or classifiers—so that analyses (including sc-eQTL) are interpreted in terms of known or novel cell types.

Why it matters in GWAS

Misannotation propagates to pseudobulk strata and cell-type–specific regulatory claims; alignment with atlases (e.g. Human Cell Atlas) supports reproducible interpretation of GWAS follow-up.

Example usage

"Cell-type annotation transferred labels from a reference atlas to identify immune subpopulations in the dataset."

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
  • Luecken MD, Theis FJ. (2019). Current best practices in single-cell RNA-seq analysis: a tutorial. Mol Syst Biol.

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