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."
Related terms¶
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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