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Top Variant

Definition
AI-generated

Top variant is an informal term for the variant with the strongest statistical association in a region or analysis, usually the one with the smallest p-value.

Topics

Why it matters in GWAS

This wording is common in slides, figure captions, and quick summaries. In formal writing, authors often use "lead variant" or "sentinel variant" for the same statistical idea.

Example usage

"The top variant at this locus reached genome-wide significance, but high LD prevented direct causal assignment."

References

  • Uffelmann E, et al. (2021). Genome-wide association studies. Nat Rev Methods Primers. https://doi.org/10.1038/s43586-021-00056-9
  • Kamatani Y, et al. (2010). Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat Genet. https://doi.org/10.1038/ng.531

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