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Population Isolate

Definition
AI-generated

A population isolate is a group with reduced gene flow and often a historical bottleneck, yielding distinctive allele frequencies, extended linkage disequilibrium, and sometimes enrichment of large-effect or locally common variants.

Topics
Population genetics
Related
FinnGen Gene Flow Genetic Bottleneck

Why it matters in GWAS

Isolates can boost discovery power for some variants and simplify imputation within the group, but effect estimates and polygenic scores may not transfer to outbred populations; they interact with fine-mapping and cross-cohort meta-analysis design.

Example usage

"Cross-cohort analyses modeled Population Isolate to improve transferability and reduce population-structure confounding."

FinnGen Gene Flow Genetic Bottleneck Genome-Wide Association Study (GWAS) Polygenic Risk Score Portability
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

  • Hatzikotoulas K, Gilly A, Zeggini E. (2014). Using population isolates in genetic association studies. Brief Funct Genomics.
  • Kuchenbaecker K, Navoly G. (2026). Ancestral diversity in complex disease genetics: from discovery to translation. Nat Rev Genet. https://doi.org/10.1038/s41576-025-00921-3
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