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Genetic variant

Definition
AI-generated

Any departure from a reference sequence—including SNVs, indels, and structural changes.

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

"Quality-controlled Genetic variant data were used to prioritize robust loci and downstream functional follow-up."

References

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

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