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Segmental duplication

Definition
AI-generated

Near-identical duplicated multi-kb–Mb segments seeding CNV and complicating mapping.

Topics

Why it matters in GWAS

GWAS hits are interpreted through gene structure, regulation, and variant consequence; molecular vocabulary connects association statistics to mechanism.

Example usage

"The methods section includes Segmental duplication to support interpretation of the primary findings."

References

  • Griffiths AJF, et al. (2015). An Introduction to Genetic Analysis. W. H. Freeman.

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