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Paralog

Definition
AI-generated

Paralogs are homologous genes related by duplication within a genome or lineage—segmental or whole-genome duplication, tandem arrays, or retrocopy—after which copies can diverge in sequence, regulation, or function.

Why it matters in GWAS

Gene families and paralogs complicate fine-mapping, rare-variant aggregation, and expression interpretation: signal may tag one member while function is shared or compensated by paralogs; dosage sensitivity and redundancy affect predictions.

Example usage

"The association mapped near a tandem paralog cluster, so we tested all copies for cis-eQTL effects."

References

  • Ohno S. (1970). Evolution by Gene Duplication. Springer.

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