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Uniparental disomy (UPD)

Definition
AI-generated

Both copies of a chromosome inherited from the same parent—reveals imprinting disorders or recessive risk.

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

"Downstream interpretation uses Uniparental disomy (UPD) to connect statistical evidence with biological context."

References

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

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