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Single-Cell Perturbation Genomics

Definition
AI-generated

Single-cell perturbation genomics measures transcriptomic (and increasingly multi-omic) responses of individual cells to deliberate perturbations—genetic (e.g. CRISPR), chemical, or cytokine stimuli—often in pooled high-throughput designs.

Why it matters in GWAS

Post-GWAS prioritization benefits from causal, context-specific readouts: perturbation screens can suggest which candidate genes regulate disease-relevant programs in the cell types implicated by single-cell GWAS integration or sc-eQTL maps.

Example usage

"Functional interpretation integrated Single-Cell Perturbation Genomics evidence with GWAS signals in relevant cell states."

References

  • Dixit A, et al. (2016). Perturb-Seq: dissecting molecular circuits with scalable single-cell RNA profiling of pooled genetic screens. Cell.
  • Dimitrov D, Schrod S, Rohbeck M, et al. (2026). Interpretation, extrapolation and perturbation of single cells. Nat Rev Genet. https://doi.org/10.1038/s41576-025-00920-4

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