Geographic population structure analysis of worldwide human populations infers their biogeographical origins

Eran Elhaik, Tatiana Tatarinova, Dmitri Chebotarev, Ignazio S. Piras, Carla Maria Calò, Antonella De Montis, Manuela Atzori, Monica Marini, Sergio Tofanelli, Paolo Francalacci, Luca Pagani, Chris Tyler-Smith, Yali Xue, Francesco Cucca, Theodore G. Schurr, Jill B. Gaieski, Carlalynne Melendez, Miguel G. Vilar, Amanda C. Owings, Rocío GómezRicardo Fujita, Fabrício R. Santos, David Comas, Oleg Balanovsky, Elena Balanovska, Pierre Zalloua, Himla Soodyall, Ramasamy Pitchappan, Arun Kumar Ganesh Prasad, Michael Hammer, Lisa Matisoo-Smith, R. Spencer Wells, Oscar Acosta, Syama Adhikarla, Christina J. Adler, Jaume Bertranpetit, Andrew C. Clarke, Alan Cooper, Clio S.I. Der Sarkissian, Wolfgang Haak, Marc Haber, Li Jin, Matthew E. Kaplan, Hui Li, Shilin Li, Begoña Martínez-Cruz, Nirav C. Merchant, John R. Mitchell, Laxmi Parida, Daniel E. Platt, Lluis Quintana-Murci, Colin Renfrew, Daniela R. Lacerda, Ajay K. Royyuru, Jose Raul Sandoval, Arun Varatharajan Santhakumari, David F.Soria Hernanz, Pandikumar Swamikrishnan, Janet S. Ziegle

Research output: Contribution to journalArticle

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Abstract

The search for a method that utilizes biological information to predict humans' place of origin has occupied scientists for millennia. Over the past four decades, scientists have employed genetic data in an effort to achieve this goal but with limited success. While biogeographical algorithms using next-generation sequencing data have achieved an accuracy of 700km in Europe, they were inaccurate elsewhere. Here we describe the Geographic Population Structure (GPS) algorithm and demonstrate its accuracy with three data sets using 40,000-130,000 SNPs. GPS placed 83% of worldwide individuals in their country of origin. Applied to over 200 Sardinians villagers, GPS placed a quarter of them in their villages and most of the rest within 50km of their villages. GPS's accuracy and power to infer the biogeography of worldwide individuals down to their country or, in some cases, village, of origin, underscores the promise of admixture-based methods for biogeography and has ramifications for genetic ancestry testing.

Original languageEnglish (US)
Article number3513
JournalNature communications
Volume5
DOIs
StatePublished - Apr 29 2014

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ASJC Scopus subject areas

  • Chemistry(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Physics and Astronomy(all)

Cite this

Elhaik, E., Tatarinova, T., Chebotarev, D., Piras, I. S., Calò, C. M., De Montis, A., Atzori, M., Marini, M., Tofanelli, S., Francalacci, P., Pagani, L., Tyler-Smith, C., Xue, Y., Cucca, F., Schurr, T. G., Gaieski, J. B., Melendez, C., Vilar, M. G., Owings, A. C., ... Ziegle, J. S. (2014). Geographic population structure analysis of worldwide human populations infers their biogeographical origins. Nature communications, 5, [3513]. https://doi.org/10.1038/ncomms4513