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Ancestral allele

Definition
AI-generated

Allele inferred to match the most recent common ancestor of a site—may differ from reference assembly allele.

Why it matters in GWAS

Population structure, demographic history, and mating patterns affect allele frequencies, LD, relatedness, and cross-cohort portability—central to GWAS design and interpretation.

Example usage

"At each lead locus, we annotated the ancestral allele using primate outgroups to assess whether risk-increasing variants were typically derived."

References

  • Hartl DL, Clark AG. (2007). Principles of Population Genetics. Sinauer Associates.
  • Jobling MA, Hurles ME, Tyler-Smith C. (2013). Human Evolutionary Genetics. Garland Science.

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