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Causal Machine Learning for Single-Cell Genomics

Definition
AI-generated

Causal machine learning for single-cell genomics aims to estimate perturbation effects, counterfactual cell states, or regulatory structure from high-dimensional single-cell data while addressing confounding, batch structure, and missing interventions.

Why it matters in GWAS

Observational sc-eQTL and atlas data are associative; causal ML frames when predicted responses to a gene knockdown or drug—in silico or measured—can support mechanistic claims about GWAS candidate genes without over-interpreting correlation.

Example usage

"Causal machine learning for single-cell genomics prioritized cell states most consistent with putative intervention targets."

References

  • Tejada-Lapuerta A, et al. (2025). Causal machine learning for single-cell genomics. Nat Genet.
  • Dong M, et al. (2023). Causal identification of single-cell experimental perturbation effects with CINEMA-OT. Nat Methods.
  • 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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