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Biological Causality

Definition
AI-generated

Biological Causality refers to claims about the actual molecular, cellular, or physiological mechanism linking genetic variation (or an intervention) to phenotype—which gene or regulatory element is altered, in which context, and through which mediators—as opposed to statistical identification alone from observational data.

Topics
Core genetics Post-GWAS
Related
Causality Causal Configuration Colocalization

Why it matters in GWAS

Fine-mapping, expression and protein quantitative trait loci, colocalization, perturbation experiments, and single-cell readouts help move from associated loci to plausible causal genes and pathways; without such evidence, “causal variant” language often means only statistical support within a genomic interval.

Example usage

"After fine-mapping and CRISPR tiling, they argued for biological causality of the enhancer deletion on insulin secretion, beyond population-level association."

Causality Causal Configuration Colocalization Fine-Mapping Functional Fine-Mapping Genome-Wide Association Study (GWAS) Statistical Causality Variant Annotation
Related-term network

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References

  • Nica AC, Dermitzakis ET. (2013). Expression quantitative trait loci in humans. Genome Res.
  • Schaid DJ, Chen W, Larson NB. (2018). From genome-wide associations to candidate causal variants by statistical fine-mapping. Nat Rev Genet.
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