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CpG island

Definition
AI-generated

GC-rich region with elevated CpG dinucleotide density; often unmethylated around promoters in somatic cells.

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 sentinel variant sits near a CpG island with differential methylation across case and control samples."

References

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

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