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Genetic Mapping of Thermotolerance Differences Between Species of Saccharomyces Yeast via Genome-Wide Reciprocal Hemizygosity Analysis
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Genetic similarities within and between human populations.

D J Witherspoon1, S Wooding, A R Rogers

  • 1Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84112, USA.

Genetics
|March 7, 2007
PubMed
Summary

Human genetic variation between populations is modest, yet genetic data allows accurate individual classification. This is because classification methods use aggregate population properties, not just individual genetic similarity.

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Area of Science:

  • Human genetics
  • Population genetics
  • Genomic variation

Background:

  • Human genetic variation between populations is modest.
  • Individuals from different populations can be more genetically similar than those from the same population.
  • Sufficient genetic data can enable accurate individual classification into populations.

Purpose of the Study:

  • To explain why modest population variation allows accurate individual classification.
  • To analyze the frequency (omega) where individuals from different populations are more similar than those within a single population.
  • To compare omega with classification error rates across various data sets.

Main Methods:

  • Analysis of genetic similarity between pairs of individuals from different and same populations.
  • Comparison of omega with error rates of classification methods.
  • Varying data sets by number of loci, allele frequency, sampled populations, and ascertainment strategy.

Main Results:

  • Classification methods achieve higher discriminatory power than omega due to aggregate population properties.
  • The number of analyzed loci is the most critical variable for classification accuracy.
  • Accurate classification is possible with 100 polymorphisms, yet omega remains sizable even between distinct populations (e.g., Africans and Europeans).

Conclusions:

  • Phenotypes controlled by few loci (<12) are expected to show substantial overlap between human populations.
  • Caution is empirically justified when using population labels in biomedical settings.
  • Findings have broad implications for personalized medicine, pharmacogenetics, and the concept of race.