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Human Cell Atlas

Definition
AI-generated

The Human Cell Atlas (HCA) is an international initiative to chart the molecular identity, location, and diversity of human cells across tissues and development, using single-cell and spatial genomics to build reference maps of the body.

Why it matters in GWAS

Atlas-scale single-cell references help annotate cell types and states when interpreting GWAS hits, designing sc-eQTL studies, and linking organism-level traits to candidate effector populations.

Example usage

"Human Cell Atlas data were integrated with association signals to refine biological interpretation of lead loci."

References

  • Regev A, et al. (2017). The Human Cell Atlas. eLife.
  • 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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