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Derived Allele

Definition
AI-generated

A derived allele is an allele that differs from the inferred ancestral state at a site, meaning it arose by mutation on a lineage after the common ancestor.

Topics
Population genetics Evolutionary genetics
Related
Ancestral allele Reference Allele Alternative Allele

Why it matters in GWAS

Derived-versus-ancestral annotation is used in evolutionary interpretation (for example, selection analyses or direction-of-effect summaries), but it is distinct from reference/alternative and effect/risk labels used in association reporting.

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 tested whether trait-increasing alleles were enriched among derived alleles across genome-wide significant loci."

"At lead loci, Derived allele annotations helped compare evolutionary direction of risk effects."

Ancestral allele Reference Allele Alternative Allele Risk Allele Effect Allele Ancestral Allele Minor Allele Frequency Natural Selection
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

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.

Derived allele

  • 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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