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<p>The study of human genetic variation among populations has attracted much interest for almost 100 years, since the first realization of the differences in allele frequencies that are the result of human history, geography, and demography. Measures of genetic differentiation were developed not only to summarize this diversity but also to make inferences about the underlying forces that shape this variation. Likewise, the study of genetic similarities and differences among related individuals is also about 100 years old. These individual patterns of variation also derive from the events of randomness in the transmission of DNA from generation to generation, but on a much shorter time-scale. In this centenary volume in honor of Professor C.&#xa0;R.&#xa0;Rao, a brief review of approaches to the analysis of human genetic variation is appropriate: Professor Rao also, among his many major contributions, developed multivariate measures of population differentiation and statistical approaches to the analysis of genetic diversity Rao (<i>Theor. Popul. Biol.</i>, <b>21</b>, 24–43, 1982). As genetic and genomic technologies evolve, the available data provide new insights into the structure of human genetic variation and new measures and methods have been developed to address questions of ancestry and admixture in our genomes. The advent of widely available SNP data activated a wave of analyses and many interesting results. These data led to a merging of individual-based and population-based analyses with the ability to analyze genotypic information on many individuals who may represent a number of different human populations or whose genome may be a mixture of recognized separate populations. However, the inheritance of DNA is segmental in nature, resulting in an additional dimension of haplotypic variation, which can reveal more fine-structured patterns of genetic variation. The ability to study human genetic variation at the individual level offers hope for personalized medicine, and is a stated motivation for many human genetic studies. However, within many populations, and more so between them, the high dimensionality of variation means that current methods to adjust for population structure for GWAS or risk analyses may fail in this regard. An understanding of the complexities of human genetic variation is important to a recognition of the limitations of current genetic assessments of individual health risks.</p>

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Genetic Diversity Within and Between Human Populations

  • 期刊论文

  • 发表日期：

    2026年3月25日

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  • Elizabeth Thompson

摘要

The study of human genetic variation among populations has attracted much interest for almost 100 years, since the first realization of the differences in allele frequencies that are the result of human history, geography, and demography. Measures of genetic differentiation were developed not only to summarize this diversity but also to make inferences about the underlying forces that shape this variation. Likewise, the study of genetic similarities and differences among related individuals is also about 100 years old. These individual patterns of variation also derive from the events of randomness in the transmission of DNA from generation to generation, but on a much shorter time-scale. In this centenary volume in honor of Professor C. R. Rao, a brief review of approaches to the analysis of human genetic variation is appropriate: Professor Rao also, among his many major contributions, developed multivariate measures of population differentiation and statistical approaches to the analysis of genetic diversity Rao (Theor. Popul. Biol., 21, 24–43, 1982). As genetic and genomic technologies evolve, the available data provide new insights into the structure of human genetic variation and new measures and methods have been developed to address questions of ancestry and admixture in our genomes. The advent of widely available SNP data activated a wave of analyses and many interesting results. These data led to a merging of individual-based and population-based analyses with the ability to analyze genotypic information on many individuals who may represent a number of different human populations or whose genome may be a mixture of recognized separate populations. However, the inheritance of DNA is segmental in nature, resulting in an additional dimension of haplotypic variation, which can reveal more fine-structured patterns of genetic variation. The ability to study human genetic variation at the individual level offers hope for personalized medicine, and is a stated motivation for many human genetic studies. However, within many populations, and more so between them, the high dimensionality of variation means that current methods to adjust for population structure for GWAS or risk analyses may fail in this regard. An understanding of the complexities of human genetic variation is important to a recognition of the limitations of current genetic assessments of individual health risks.