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Epistasis

Definition
AI-generated

Epistasis (gene–gene interaction) describes situations where the phenotypic effect of a variant at one locus depends on alleles at another locus.

Topics

Why it matters in GWAS

Standard SNP-by-SNP GWAS has limited power for high-order interactions; detected marginal effects may mask or reflect underlying epistatic architecture in pathways.

Example usage

"Functional follow-up considered Epistasis when interpreting variable genotype-to-phenotype relationships."

References

  • Mackay TFC, Moore JH. (2014). Why epistasis is important for tackling complex human disease genetics. Genome Med.

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