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

Elhaik, E, Tatarinova, T, Chebotarev, D, Piras, IS, Calo, CM, De Montis, A, Atzori, M, Marini, M, Tofanelli, S, Francalacci, P, Pagani, L, Tyler-Smith, C, Xue, Y, Cucca, F, Schurr, TG, Gaieski, JB, Melendez, C, Vilar, MG, Owings, AC, Gomez, R et al (2014) Geographic population structure analysis of worldwide human populations infers their biogeographical origins. Nature Communications, 5 (1). ISSN 2041-1723

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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 700 km 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 50 km 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.

Item Type:	Article
Uncontrolled Keywords:	Science & Technology; Multidisciplinary Sciences; Science & Technology - Other Topics; Y-CHROMOSOME; SARDINIAN SUBPOPULATIONS; GENETIC DATA; ADMIXTURE; ANCESTRY; HISTORY; SUBSTRUCTURE; ANTHROPOLOGY; POLYNESIANS; ASSOCIATION; Science & Technology; Multidisciplinary Sciences; Science & Technology - Other Topics; Y-CHROMOSOME; SARDINIAN SUBPOPULATIONS; GENETIC DATA; ADMIXTURE; ANCESTRY; HISTORY; SUBSTRUCTURE; ANTHROPOLOGY; POLYNESIANS; ASSOCIATION; Genographic Consortium; Humans; Genetics, Population; Polymorphism, Single Nucleotide; Genome, Human; Algorithms; Europe; Algorithms; Europe; Genetics, Population; Genome, Human; Humans; Polymorphism, Single Nucleotide; 31 Biological Sciences; 3105 Genetics; Genetics; Human Genome; Algorithms; Europe; Genetics, Population; Genome, Human; Humans; Polymorphism, Single Nucleotide
Subjects:	G Geography. Anthropology. Recreation > G Geography (General) G Geography. Anthropology. Recreation > GE Environmental Sciences Q Science > QH Natural history > QH301 Biology
Divisions:	Biological and Environmental Sciences (from Sep 19)
Publisher:	Macmillan Publishers Ltd
Date of acceptance:	26 February 2014
Date of first compliant Open Access:	12 September 2025
Date Deposited:	12 Sep 2025 09:44
Last Modified:	12 Sep 2025 10:00
DOI or ID number:	10.1038/ncomms4513
URI:	https://researchonline.ljmu.ac.uk/id/eprint/27150

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