Genetics and genomics of human population structure

Sohini Ramachandran, Hua Tang, Ryan N. Gutenkunst, Carlos D. Bustamante

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

Abstract

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.

Original languageEnglish (US)
Title of host publicationVogel and Motulsky's Human Genetics
Subtitle of host publicationProblems and Approaches (Fourth Edition)
PublisherSpringer-Verlag Berlin Heidelberg
Pages589-615
Number of pages27
ISBN (Electronic)9783540376545
ISBN (Print)9783540376538
DOIs
StatePublished - Jan 1 2010
Externally publishedYes

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ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Ramachandran, S., Tang, H., Gutenkunst, R. N., & Bustamante, C. D. (2010). Genetics and genomics of human population structure. In Vogel and Motulsky's Human Genetics: Problems and Approaches (Fourth Edition) (pp. 589-615). Springer-Verlag Berlin Heidelberg. https://doi.org/10.1007/978-3-540-37654-5_22