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Pathway Analysis

Definition
AI-generated

Pathway (or gene-set) analysis aggregates association evidence across variants mapped to genes and then to predefined sets (pathways, GO terms, curated disease sets), testing whether a set is enriched for association signal.

Topics

Why it matters in GWAS

It can implicate biological processes when single-variant signals are dispersed and highlights genes with modest individual effects that share function.

Example usage

"Pathway Analysis was used to harmonize feature labels before enrichment and downstream interpretation."

References

  • Watanabe K, et al. (2017). A global overview of pleiotropy and genetic architecture in complex traits. Nat Genet.
  • GWASTutorial: Gene / Gene-set tests by MAGMA.

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