Global distribution of genomic diversity underscores rich complex history of continental human populations

Adam Auton, Katarzyna Bryc, Adam R. Boyko, Kirk E. Lohmueller, John Novembre, Andy Reynolds, Amit Indap, Mark H. Wright, Jeremiah D. Degenhardt, Ryan N. Gutenkunst, Karen S. King, Matthew R. Nelson, Carlos D. Bustamante

Research output: Contribution to journalArticle

116 Citations (Scopus)

Abstract

Characterizing patterns of genetic variation within and among human populations is important for understanding human evolutionary history and for careful design of medical genetic studies. Here, we analyze patterns of variation across 443,434 single nucleotide polymorphisms (SNPs) genotyped in 3845 individuals from four continental regions. This unique resource allows us to illuminate patterns of diversity in previously under-studied populations at the genome-wide scale including Latin America, South Asia, and Southern Europe. Key insights afforded by our analysis include quantifying the degree of admixture in a large collection of individuals from Guadalajara, Mexico; identifying language and geography as key determinants of population structure within India; and elucidating a north-south gradient in haplotype diversity within Europe. We also present a novel method for identifying long-range tracts of homozygosity indicative of recent common ancestry. Application of our approach suggests great variation within and among populations in the extent of homozygosity, suggesting both demographic history (such as population bottlenecks) and recent ancestry events (such as consanguinity) play an important role in patterning variation in large modern human populations.

Original languageEnglish (US)
Pages (from-to)795-803
Number of pages9
JournalGenome Research
Volume19
Issue number5
DOIs
StatePublished - May 2009
Externally publishedYes

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Population
Consanguinity
Geography
Latin America
Medical Genetics
Mexico
Haplotypes
Single Nucleotide Polymorphism
India
Language
History
Demography
Genome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Auton, A., Bryc, K., Boyko, A. R., Lohmueller, K. E., Novembre, J., Reynolds, A., ... Bustamante, C. D. (2009). Global distribution of genomic diversity underscores rich complex history of continental human populations. Genome Research, 19(5), 795-803. https://doi.org/10.1101/gr.088898.108

Global distribution of genomic diversity underscores rich complex history of continental human populations. / Auton, Adam; Bryc, Katarzyna; Boyko, Adam R.; Lohmueller, Kirk E.; Novembre, John; Reynolds, Andy; Indap, Amit; Wright, Mark H.; Degenhardt, Jeremiah D.; Gutenkunst, Ryan N.; King, Karen S.; Nelson, Matthew R.; Bustamante, Carlos D.

In: Genome Research, Vol. 19, No. 5, 05.2009, p. 795-803.

Research output: Contribution to journalArticle

Auton, A, Bryc, K, Boyko, AR, Lohmueller, KE, Novembre, J, Reynolds, A, Indap, A, Wright, MH, Degenhardt, JD, Gutenkunst, RN, King, KS, Nelson, MR & Bustamante, CD 2009, 'Global distribution of genomic diversity underscores rich complex history of continental human populations', Genome Research, vol. 19, no. 5, pp. 795-803. https://doi.org/10.1101/gr.088898.108
Auton, Adam ; Bryc, Katarzyna ; Boyko, Adam R. ; Lohmueller, Kirk E. ; Novembre, John ; Reynolds, Andy ; Indap, Amit ; Wright, Mark H. ; Degenhardt, Jeremiah D. ; Gutenkunst, Ryan N. ; King, Karen S. ; Nelson, Matthew R. ; Bustamante, Carlos D. / Global distribution of genomic diversity underscores rich complex history of continental human populations. In: Genome Research. 2009 ; Vol. 19, No. 5. pp. 795-803.
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