Vogel and Motulsky's Human Genetics

pp 589-615

Genetics and Genomics of Human Population Structure

  • Sohini RamachandranAffiliated withSociety of Fellows, Harvard University
  • , Hua TangAffiliated withDepartment of Genetics, Stanford Medical School
  • , Ryan N. GutenkunstAffiliated withTheoretical Biology and Biophysics, and Center for Nonlinear Studies, Los Alamos National Laboratory
  • , Carlos D. BustamanteAffiliated withDepartment of Biological Statistics and Computational Biology, Cornell University

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Recent developments in sequencing technology have created a flood of new data on human genetic variation, and this data has yielded new insights into human population structure. Here we review what both early and more recent studies have taught us about human population structure and history. Early studies showed that most human genetic variation occurs within populations rather than between them, and that genetically related populations often cluster geographically. Recent studies based on much larger data sets have recapitulated these observations, but have also demonstrated that high-density genotyping allows individuals to be reliably assigned to their population of origin. In fact, for admixed individuals, even the ancestry of particular genomic regions can often be reliably inferred. Recent studies have also offered detailed information about the composition of specific populations from around the world, revealing how history has shaped their genetic makeup. We also briefly review quantitative models of human genetic history, including the role natural selection has played in shaping human genetic variation.