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Aneuploidy

Definition
AI-generated

Gain or loss of individual chromosomes (e.g. trisomy) versus euploid sets.

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

"Single-cell DNA profiling detected mosaic aneuploidy in a subset of tumor cells, including recurrent chromosome 8 gain."

References

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

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