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Allele frequency

Definition
AI-generated

Proportion or count of a given allele among chromosomes in a defined sample.

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

"We excluded variants with very low allele frequency in the target cohort to reduce unstable effect-size estimates."

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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