Skip to content

Perturb-seq

Definition
AI-generated

Perturb-seq denotes pooled CRISPR (or related) screens in which each cell carries a genetic perturbation and is profiled by single-cell RNA sequencing, yielding genome-scale maps of how knocking out or activating genes shifts transcriptional phenotypes.

Synonyms

Why it matters in GWAS

When a locus points to several plausible effector genes, Perturb-seq-style data can show which perturbations recapitulate disease-relevant programs in a relevant model cell type—orthogonal evidence to eQTL overlap alone.

Example usage

"The prioritized gene appeared as a strong hit in a published Perturb-seq map of immune stimulation responses."

References

  • Dixit A, et al. (2016). Perturb-Seq: dissecting molecular circuits with scalable single-cell RNA profiling of pooled genetic screens. Cell.
  • Replogle JM, et al. (2022). Mapping information-rich genotype-phenotype landscapes with genome-scale Perturb-seq. 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

Last updated (UTC · Git history)