ArticleNature2016
Genomic analyses inform on migration events during the peopling of Eurasia.
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Article in Nature, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 193 papers, 1 of them a synthesis that pooled it.
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193citing papers in PubMed, 1 pooled it
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Who cites it
193 citing papers in PubMed, 1 synthesis or guideline pooled it.
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- Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation.Journal of medical genetics · 2025Article
- Tracing the Genetic Heritage of the Kirgiz People: Dual-Wave Admixture and Ancestry-Biased Adaptation.Molecular biology and evolution · 2025Article
- Resolving out of Africa event for Papua New Guinean population using neural network.Nature communications · 2025Article
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133 more citing papers are in PubMed but not listed here.
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Authors and funding
98 authors.
Luca Pagani *Estonian Biocentre, Tartu, Estonia.
Daniel John Lawson *Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol BS8 2BN, UK.
Evelyn Jagoda *Department of Biological Anthropology, University of Cambridge, Cambridge, United Kingdom.
Alexander Mörseburg *Department of Biological Anthropology, University of Cambridge, Cambridge, United Kingdom.
Anders Eriksson *Integrative Systems Biology Lab, Division of Biological and Environmental Sciences & Engineering, King Abdullah University of Science and Technology, Thuwal, Kingdom of Saudi Arabia.
Mario MittEstonian Genome Center, University of Tartu, Tartu, Estonia.
Florian ClementeDepartment of Biological Anthropology, University of Cambridge, Cambridge, United Kingdom.
Georgi HudjashovEstonian Biocentre, Tartu, Estonia.
Michael DeGiorgioDepartment of Biology, Pennsylvania State University, University Park, PA, 16802, USA.
Lauri SaagEstonian Biocentre, Tartu, Estonia.
Jeffrey D WallInstitute for Human Genetics, University of California, San Francisco, California 94143, USA.
Alexia CardonaDepartment of Biological Anthropology, University of Cambridge, Cambridge, United Kingdom.
Reedik MägiEstonian Genome Center, University of Tartu, Tartu, Estonia.
Melissa A Wilson SayresSchool of Life Sciences, Tempe, AZ, 85287 USA.
Sarah KaewertDepartment of Biological Anthropology, University of Cambridge, Cambridge, United Kingdom.
Charlotte InchleyDepartment of Biological Anthropology, University of Cambridge, Cambridge, United Kingdom.
Christiana L ScheibDepartment of Biological Anthropology, University of Cambridge, Cambridge, United Kingdom.
Mari JärveEstonian Biocentre, Tartu, Estonia.
Monika KarminEstonian Biocentre, Tartu, Estonia.
Guy S JacobsMathematical Sciences, University of Southampton, Southampton SO17 1BJ, UK.
Tiago AntaoDivision of Biological Sciences, University of Montana, Missoula, MT, USA.
Florin Mircea IliescuDepartment of Biological Anthropology, University of Cambridge, Cambridge, United Kingdom.
Alena KushniarevichEstonian Biocentre, Tartu, Estonia.
Qasim AyubThe Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom.
Chris Tyler-SmithThe Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom.
Yali XueThe Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom.
Bayazit YunusbayevEstonian Biocentre, Tartu, Estonia.
Kristiina TambetsEstonian Biocentre, Tartu, Estonia.
Chandana Basu MallickEstonian Biocentre, Tartu, Estonia.
Lehti SaagDepartment of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
Elvira PocheshkhovaKuban State Medical University, Krasnodar, Russia.
George AndriadzeScientific-Research Center of the Caucasian Ethnic Groups, St. Andrews Georgian University, Georgia.
Craig MullerCenter for GeoGenetics, University of Copenhagen, Denmark.
Michael C WestawayResearch Centre for Human Evolution, Environmental Futures Research Institute, Griffith University, Nathan, Australia.
David M LambertResearch Centre for Human Evolution, Environmental Futures Research Institute, Griffith University, Nathan, Australia.
Grigor ZoraqiCenter of Molecular Diagnosis and Genetic Research, University Hospital of Obstetrics and Gynecology, Tirana, Albania.
Shahlo TurdikulovaCenter of High Technology, Academy of Sciences, Republic of Uzbekistan.
Dilbar DalimovaInstitute of Bioorganic Chemistry Academy of Science, Republic of Uzbekistan.
Zhaxylyk SabitovL.N. Gumilyov Eurasian National University, Astana, Kazakhstan.
Gazi Nurun Nahar SultanaCentre for Advanced Research in Sciences (CARS), DNA Sequencing Research Laboratory, University of Dhaka, Dhaka-1000, Bangladesh.
Joseph LachanceDepartment of Genetics, University of Pennsylvania, Philadelphia, PA, 19104-6145, USA.
Sarah TishkoffDepartments of Genetics and Biology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Kuvat MomynalievDNcode laboratories, Moscow, Russia.
Jainagul IsakovaInstitute of Molecular Biology and Medicine, Bishkek, Kyrgyz Republic.
Larisa D DambaInstitute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.
Marina GubinaInstitute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.
Pagbajabyn NymadawaMongolian Academy of Medical Sciences, Ulaanbaatar, Mongolia.
Irina EvseevaNorthern State Medical University, Arkhangelsk, Russia.
Lubov AtramentovaV. N. Karazin Kharkiv National University, Kharkiv, Ukraine.
Olga UtevskaV. N. Karazin Kharkiv National University, Kharkiv, Ukraine.
François-Xavier RicautEvolutionary Medicine group, Laboratoire d'Anthropologie Moléculaire et Imagerie de Synthèse, UMR 5288, Centre National de la Recherche Scientifique, Université de Toulouse 3, Toulouse, France.
Nicolas BrucatoEvolutionary Medicine group, Laboratoire d'Anthropologie Moléculaire et Imagerie de Synthèse, UMR 5288, Centre National de la Recherche Scientifique, Université de Toulouse 3, Toulouse, France.
Herawati SudoyoGenome Diversity and Diseases Laboratory, Eijkman Institute for Molecular Biology, Jakarta, Indonesia.
Thierry LetellierEvolutionary Medicine group, Laboratoire d'Anthropologie Moléculaire et Imagerie de Synthèse, UMR 5288, Centre National de la Recherche Scientifique, Université de Toulouse 3, Toulouse, France.
Murray P CoxStatistics and Bioinformatics Group, Institute of Fundamental Sciences, Massey University, Palmerston North, New Zealand.
Nikolay A BarashkovDepartment of Molecular Genetics, Yakut Scientific Centre of Complex Medical Problems, Yakutsk, Russia.
Vedrana SkaroGenos, DNA laboratory, Zagreb, Croatia.
Lejla MulahasanovicCenter for Genomics and Transcriptomics, CeGaT, GmbH, Tübingen, Germany.
Dragan PrimoracSt. Catherine Speciality Hospital, Zabok, Croatia.
Hovhannes SahakyanEstonian Biocentre, Tartu, Estonia.
Maru MorminaDepartment of Applied Social Sciences, University of Winchester, Sparkford Road, Winchester SO22 4NR, UK.
Christina A EichstaedtDepartment of Biological Anthropology, University of Cambridge, Cambridge, United Kingdom.
Daria V LichmanInstitute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.
Syafiq AbdullahRIPAS Hospital, Bandar Seri Begawan, Brunei Darussalam.
Gyaneshwer ChaubeyEstonian Biocentre, Tartu, Estonia.
Joseph T S WeeNational Cancer Centre Singapore, Singapore.
Evelin MihailovEstonian Genome Center, University of Tartu, Tartu, Estonia.
Alexandra KarunasInstitute of Biochemistry and Genetics, Ufa Scientific Center of RAS, Ufa, Russia.
Sergei LitvinovInstitute of Biochemistry and Genetics, Ufa Scientific Center of RAS, Ufa, Russia.
Rita KhusainovaInstitute of Biochemistry and Genetics, Ufa Scientific Center of RAS, Ufa, Russia.
Natalya EkomasovaDepartment of Genetics and Fundamental Medicine, Bashkir State University, Ufa, Russia.
Vita AkhmetovaInstitute of Biochemistry and Genetics, Ufa Scientific Center of RAS, Ufa, Russia.
Irina KhidiyatovaInstitute of Biochemistry and Genetics, Ufa Scientific Center of RAS, Ufa, Russia.
Damir MarjanovićDepartment of Genetics and Bioengineering. Faculty of Engineering and Information Technologies, International Burch University, Sarajevo, Bosnia and Herzegovina.
Levon YepiskoposyanLaboratory of Ethnogenomics, Institute of Molecular Biology, National Academy of Sciences, Republic of Armenia, 7 Hasratyan Street, 0014, Yerevan, Armenia.
Doron M BeharEstonian Biocentre, Tartu, Estonia.
Elena BalanovskaResearch Centre for Medical Genetics, Russian Academy of Sciences, Moscow 115478, Russia.
Andres MetspaluDepartment of Zoology, University of Cambridge, Cambridge, UK.
Miroslava DerenkoGenetics Laboratory, Institute of Biological Problems of the North, Russian Academy of Sciences, Magadan, Russia.
Boris MalyarchukGenetics Laboratory, Institute of Biological Problems of the North, Russian Academy of Sciences, Magadan, Russia.
Mikhail VoevodaInstitute of Internal Medicine, Siberian Branch of Russian Academy of Medical Sciences, Novosibirsk, Russia.
Sardana A FedorovaLaboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russia.
Ludmila P OsipovaInstitute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.
Marta Mirazón LahrLeverhulme Centre for Human Evolutionary Studies, Department of Archaeology and Anthropology, University of Cambridge, Cambridge, United Kingdom.
Pascale GerbaultResearch Department of Genetics, Evolution and Environment, University College London, London, United Kingdom.
Matthew LeavesleyDepartment of Archaeology, University of Papua New Guinea, University PO Box 320, NCD, Papua New Guinea.
Andrea Bamberg MiglianoDepartment of Anthropology, University College London, London, United Kingdom.
Michael PetragliaMax Planck Institute for the Science of Human History, Kahlaische Strasse 10, D-07743 Jena, Germany.
Oleg BalanovskyVavilov Institute for General Genetics, Russian Academy of Sciences, Moscow, Russia.
Elza K KhusnutdinovaInstitute of Biochemistry and Genetics, Ufa Scientific Center of RAS, Ufa, Russia.
Ene MetspaluEstonian Biocentre, Tartu, Estonia.
Mark G ThomasResearch Department of Genetics, Evolution and Environment, University College London, London, United Kingdom.
Andrea ManicaDepartment of Zoology, University of Cambridge, Cambridge, UK.
Rasmus NielsenDepartment of Integrative Biology, University of California Berkeley, Berkeley 94720, CA, USA.
Richard Villems *Estonian Biocentre, Tartu, Estonia.
Eske Willerslev *Center for GeoGenetics, University of Copenhagen, Denmark.
Toomas Kivisild *Department of Biological Anthropology, University of Cambridge, Cambridge, United Kingdom.
Mait Metspalu *Estonian Biocentre, Tartu, Estonia.
Funding
Integrative Genomics of Body Size and Metabolism in Ethnically Diverse AfricansR01GM113657 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI TISHKOFF, SARAH ANNE · 2015 to 2019
$2.8MAfrican Odyssey: An Integrative Genomics Analysis of Complex Physiologic TraitsDP1ES022577 · NIEHS · UNIVERSITY OF PENNSYLVANIA · PI TISHKOFF, SARAH ANNE · 2012 to 2013
$1.6MIntegrative nutrigenomic and metabolomic analyses of Africans with variable dietsR01DK104339 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI TISHKOFF, SARAH ANNE · 2015 to 2018
$1.4MBiotechnology and Biological Sciences Research Council BB/H005854/1European Research Council 261213European Research Council 647787NIDDK NIH HHS R01 DK104339NIEHS NIH HHS DP1 ES022577NIGMS NIH HHS R01 GM113657Wellcome Trust
Abstract
High-coverage whole-genome sequence studies have so far focused on a limited number of geographically restricted populations, or been targeted at specific diseases, such as cancer. Nevertheless, the availability of high-resolution genomic data has led to the development of new methodologies for inferring population history and refuelled the debate on the mutation rate in humans. Here we present the Estonian Biocentre Human Genome Diversity Panel (EGDP), a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations, which we group into diversity and selection sets. We analyse this dataset to refine estimates of continent-wide patterns of heterozygosity, long- and short-distance gene flow, archaic admixture, and changes in effective population size through time as well as for signals of positive or balancing selection. We find a genetic signature in present-day Papuans that suggests that at least 2% of their genome originates from an early and largely extinct expansion of anatomically modern humans (AMHs) out of Africa. Together with evidence from the western Asian fossil record, and admixture between AMHs and Neanderthals predating the main Eurasian expansion, our results contribute to the mounting evidence for the presence of AMHs out of Africa earlier than 75,000 years ago.
Indexed as
Genome, HumanGenomicsHuman MigrationRacial GroupsAfricaAnimalsAsiaDatasets as TopicEstoniaEuropeFossilsGene FlowGenetics, PopulationHeterozygoteHistory, AncientHumans
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