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Ortholog

Definition
AI-generated

Orthologs are homologous genes (or sequences) in different species that arose by speciation from a single ancestral gene and typically retain related function.

Why it matters in GWAS

Cross-species functional follow-up, conservation screens, and model-organism experiments map human GWAS genes to orthologs; misannotation between orthologs and paralogs can misdirect mechanistic interpretation.

Example usage

"We validated the GWAS gene’s role using a loss-of-function allele in the mouse ortholog."

References

  • Koonin EV. (2005). Orthologs, paralogs, and evolutionary genomics. Annu Rev Genet.

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