scispace - formally typeset
Search or ask a question
Author

Oleg Balanovsky

Bio: Oleg Balanovsky is an academic researcher from Russian Academy of Sciences. The author has contributed to research in topics: Population & Haplogroup. The author has an hindex of 35, co-authored 102 publications receiving 8238 citations. Previous affiliations of Oleg Balanovsky include Russian Academy & Moscow Institute of Physics and Technology.


Papers
More filters
Journal ArticleDOI
Swapan Mallick1, Swapan Mallick2, Swapan Mallick3, Heng Li2, Mark Lipson3, Iain Mathieson3, Melissa Gymrek, Fernando Racimo4, Mengyao Zhao1, Mengyao Zhao3, Mengyao Zhao2, Niru Chennagiri1, Niru Chennagiri3, Niru Chennagiri2, Susanne Nordenfelt1, Susanne Nordenfelt3, Susanne Nordenfelt2, Arti Tandon2, Arti Tandon3, Pontus Skoglund3, Pontus Skoglund2, Iosif Lazaridis2, Iosif Lazaridis3, Sriram Sankararaman2, Sriram Sankararaman3, Sriram Sankararaman5, Qiaomei Fu2, Qiaomei Fu3, Qiaomei Fu6, Nadin Rohland3, Nadin Rohland2, Gabriel Renaud7, Yaniv Erlich8, Thomas Willems9, Carla Gallo10, Jeffrey P. Spence4, Yun S. Song11, Yun S. Song4, Giovanni Poletti10, Francois Balloux12, George van Driem13, Peter de Knijff14, Irene Gallego Romero15, Aashish R. Jha16, Doron M. Behar17, Claudio M. Bravi18, Cristian Capelli19, Tor Hervig20, Andrés Moreno-Estrada, Olga L. Posukh21, Elena Balanovska, Oleg Balanovsky22, Sena Karachanak-Yankova23, Hovhannes Sahakyan24, Hovhannes Sahakyan17, Draga Toncheva23, Levon Yepiskoposyan24, Chris Tyler-Smith25, Yali Xue25, M. Syafiq Abdullah26, Andres Ruiz-Linares12, Cynthia M. Beall27, Anna Di Rienzo16, Choongwon Jeong16, Elena B. Starikovskaya, Ene Metspalu28, Ene Metspalu17, Jüri Parik17, Richard Villems17, Richard Villems29, Richard Villems28, Brenna M. Henn30, Ugur Hodoglugil31, Robert W. Mahley32, Antti Sajantila33, George Stamatoyannopoulos34, Joseph Wee, Rita Khusainova35, Elza Khusnutdinova35, Sergey Litvinov17, Sergey Litvinov35, George Ayodo36, David Comas37, Michael F. Hammer38, Toomas Kivisild17, Toomas Kivisild39, William Klitz, Cheryl A. Winkler40, Damian Labuda41, Michael J. Bamshad34, Lynn B. Jorde42, Sarah A. Tishkoff11, W. Scott Watkins42, Mait Metspalu17, Stanislav Dryomov, Rem I. Sukernik43, Lalji Singh44, Lalji Singh5, Kumarasamy Thangaraj44, Svante Pääbo7, Janet Kelso7, Nick Patterson2, David Reich3, David Reich2, David Reich1 
13 Oct 2016-Nature
TL;DR: It is demonstrated that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans.
Abstract: Here we report the Simons Genome Diversity Project data set: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs that are not present in the human reference genome. Our analysis reveals key features of the landscape of human genome variation, including that the rate of accumulation of mutations has accelerated by about 5% in non-Africans compared to Africans since divergence. We show that the ancestors of some pairs of present-day human populations were substantially separated by 100,000 years ago, well before the archaeologically attested onset of behavioural modernity. We also demonstrate that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans.

1,133 citations

Journal ArticleDOI
Iosif Lazaridis1, Iosif Lazaridis2, Nick Patterson1, Alissa Mittnik3, Gabriel Renaud4, Swapan Mallick1, Swapan Mallick2, Karola Kirsanow5, Peter H. Sudmant6, Joshua G. Schraiber7, Joshua G. Schraiber6, Sergi Castellano4, Mark Lipson8, Bonnie Berger1, Bonnie Berger8, Christos Economou9, Ruth Bollongino5, Qiaomei Fu4, Kirsten I. Bos3, Susanne Nordenfelt2, Susanne Nordenfelt1, Heng Li2, Heng Li1, Cesare de Filippo4, Kay Prüfer4, Susanna Sawyer4, Cosimo Posth3, Wolfgang Haak10, Fredrik Hallgren11, Elin Fornander11, Nadin Rohland1, Nadin Rohland2, Dominique Delsate12, Michael Francken3, Jean-Michel Guinet12, Joachim Wahl, George Ayodo, Hamza A. Babiker13, Hamza A. Babiker14, Graciela Bailliet, Elena Balanovska, Oleg Balanovsky, Ramiro Barrantes15, Gabriel Bedoya16, Haim Ben-Ami17, Judit Bene18, Fouad Berrada19, Claudio M. Bravi, Francesca Brisighelli20, George B.J. Busby21, Francesco Calì, Mikhail Churnosov22, David E. C. Cole23, Daniel Corach24, Larissa Damba, George van Driem25, Stanislav Dryomov26, Jean-Michel Dugoujon27, Sardana A. Fedorova28, Irene Gallego Romero29, Marina Gubina, Michael F. Hammer30, Brenna M. Henn31, Tor Hervig32, Ugur Hodoglugil33, Aashish R. Jha29, Sena Karachanak-Yankova34, Rita Khusainova35, Elza Khusnutdinova35, Rick A. Kittles30, Toomas Kivisild36, William Klitz7, Vaidutis Kučinskas37, Alena Kushniarevich38, Leila Laredj39, Sergey Litvinov38, Theologos Loukidis40, Theologos Loukidis41, Robert W. Mahley42, Béla Melegh18, Ene Metspalu43, Julio Molina, Joanna L. Mountain, Klemetti Näkkäläjärvi44, Desislava Nesheva34, Thomas B. Nyambo45, Ludmila P. Osipova, Jüri Parik43, Fedor Platonov28, Olga L. Posukh, Valentino Romano46, Francisco Rothhammer47, Francisco Rothhammer48, Igor Rudan14, Ruslan Ruizbakiev49, Hovhannes Sahakyan50, Hovhannes Sahakyan38, Antti Sajantila51, Antonio Salas52, Elena B. Starikovskaya26, Ayele Tarekegn, Draga Toncheva34, Shahlo Turdikulova49, Ingrida Uktveryte37, Olga Utevska53, René Vasquez54, Mercedes Villena54, Mikhail Voevoda55, Cheryl A. Winkler56, Levon Yepiskoposyan50, Pierre Zalloua2, Pierre Zalloua57, Tatijana Zemunik58, Alan Cooper10, Cristian Capelli21, Mark G. Thomas40, Andres Ruiz-Linares40, Sarah A. Tishkoff59, Lalji Singh60, Kumarasamy Thangaraj61, Richard Villems62, Richard Villems43, Richard Villems38, David Comas63, Rem I. Sukernik26, Mait Metspalu38, Matthias Meyer4, Evan E. Eichler6, Joachim Burger5, Montgomery Slatkin7, Svante Pääbo4, Janet Kelso4, David Reich64, David Reich2, David Reich1, Johannes Krause3, Johannes Krause4 
Broad Institute1, Harvard University2, University of Tübingen3, Max Planck Society4, University of Mainz5, University of Washington6, University of California, Berkeley7, Massachusetts Institute of Technology8, Stockholm University9, University of Adelaide10, The Heritage Foundation11, National Museum of Natural History12, Sultan Qaboos University13, University of Edinburgh14, University of Costa Rica15, University of Antioquia16, Rambam Health Care Campus17, University of Pécs18, Al Akhawayn University19, Catholic University of the Sacred Heart20, University of Oxford21, Belgorod State University22, University of Toronto23, University of Buenos Aires24, University of Bern25, Russian Academy of Sciences26, Paul Sabatier University27, North-Eastern Federal University28, University of Chicago29, University of Arizona30, Stony Brook University31, University of Bergen32, Illumina33, Sofia Medical University34, Bashkir State University35, University of Cambridge36, Vilnius University37, Estonian Biocentre38, University of Strasbourg39, University College London40, Amgen41, Gladstone Institutes42, University of Tartu43, University of Oulu44, Muhimbili University of Health and Allied Sciences45, University of Palermo46, University of Chile47, University of Tarapacá48, Academy of Sciences of Uzbekistan49, Armenian National Academy of Sciences50, University of North Texas51, University of Santiago de Compostela52, University of Kharkiv53, Higher University of San Andrés54, Novosibirsk State University55, Leidos56, Lebanese American University57, University of Split58, University of Pennsylvania59, Banaras Hindu University60, Centre for Cellular and Molecular Biology61, Estonian Academy of Sciences62, Pompeu Fabra University63, Howard Hughes Medical Institute64
18 Sep 2014-Nature
TL;DR: It is shown that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians; and early European farmers, who were mainly of Near Eastern origin but also harboured west Europeanhunter-gatherer related ancestry.
Abstract: We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians, who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these populations' deep relationships and show that early European farmers had ∼44% ancestry from a 'basal Eurasian' population that split before the diversification of other non-African lineages.

1,077 citations

Journal ArticleDOI
02 Jan 2014-Nature
TL;DR: The findings reveal that western Eurasian genetic signatures in modern-day Native Americans derive not only from post-Columbian admixture, as commonly thought, but also from a mixed ancestry of the First Americans.
Abstract: The origins of the First Americans remain contentious. Although Native Americans seem to be genetically most closely related to east Asians, there is no consensus with regard to which specific Old World populations they are closest to. Here we sequence the draft genome of an approximately 24,000-year-old individual (MA-1), from Mal'ta in south-central Siberia, to an average depth of 1×. To our knowledge this is the oldest anatomically modern human genome reported to date. The MA-1 mitochondrial genome belongs to haplogroup U, which has also been found at high frequency among Upper Palaeolithic and Mesolithic European hunter-gatherers, and the Y chromosome of MA-1 is basal to modern-day western Eurasians and near the root of most Native American lineages. Similarly, we find autosomal evidence that MA-1 is basal to modern-day western Eurasians and genetically closely related to modern-day Native Americans, with no close affinity to east Asians. This suggests that populations related to contemporary western Eurasians had a more north-easterly distribution 24,000 years ago than commonly thought. Furthermore, we estimate that 14 to 38% of Native American ancestry may originate through gene flow from this ancient population. This is likely to have occurred after the divergence of Native American ancestors from east Asian ancestors, but before the diversification of Native American populations in the New World. Gene flow from the MA-1 lineage into Native American ancestors could explain why several crania from the First Americans have been reported as bearing morphological characteristics that do not resemble those of east Asians. Sequencing of another south-central Siberian, Afontova Gora-2 dating to approximately 17,000 years ago, revealed similar autosomal genetic signatures as MA-1, suggesting that the region was continuously occupied by humans throughout the Last Glacial Maximum. Our findings reveal that western Eurasian genetic signatures in modern-day Native Americans derive not only from post-Columbian admixture, as commonly thought, but also from a mixed ancestry of the First Americans.

772 citations

Journal ArticleDOI
Maanasa Raghavan1, Matthias Steinrücken2, Matthias Steinrücken3, Kelley Harris3, Stephan Schiffels4, Simon Rasmussen5, Michael DeGiorgio6, Anders Albrechtsen1, Cristina Valdiosera7, Cristina Valdiosera1, María C. Ávila-Arcos1, María C. Ávila-Arcos8, Anna-Sapfo Malaspinas1, Anders Eriksson9, Anders Eriksson10, Ida Moltke1, Mait Metspalu11, Mait Metspalu12, Julian R. Homburger8, Jeffrey D. Wall13, Omar E. Cornejo14, J. Víctor Moreno-Mayar1, Thorfinn Sand Korneliussen1, Tracey Pierre1, Morten Rasmussen8, Morten Rasmussen1, Paula F. Campos15, Paula F. Campos1, Peter de Barros Damgaard1, Morten E. Allentoft1, John Lindo16, Ene Metspalu11, Ene Metspalu12, Ricardo Rodríguez-Varela17, Josefina Mansilla, Celeste Henrickson18, Andaine Seguin-Orlando1, Helena Malmström19, Thomas W. Stafford1, Thomas W. Stafford20, Suyash Shringarpure8, Andrés Moreno-Estrada8, Monika Karmin11, Monika Karmin12, Kristiina Tambets11, Anders Bergström4, Yali Xue4, Vera Warmuth21, Andrew D. Friend9, Joy S. Singarayer22, Paul J. Valdes23, Francois Balloux, Ilán Leboreiro, Jose Luis Vera, Héctor Rangel-Villalobos24, Davide Pettener25, Donata Luiselli25, Loren G. Davis26, Evelyne Heyer27, Christoph P. E. Zollikofer28, Marcia S. Ponce de León28, Colin Smith7, Vaughan Grimes29, Vaughan Grimes30, Kelly-Anne Pike30, Michael Deal30, Benjamin T. Fuller31, Bernardo Arriaza32, Vivien G. Standen32, Maria F. Luz, Francois Ricaut33, Niede Guidon, Ludmila P. Osipova34, Ludmila P. Osipova35, Mikhail Voevoda34, Mikhail Voevoda35, Olga L. Posukh34, Olga L. Posukh35, Oleg Balanovsky, Maria Lavryashina36, Yuri Bogunov, Elza Khusnutdinova35, Elza Khusnutdinova37, Marina Gubina, Elena Balanovska, Sardana A. Fedorova38, Sergey Litvinov35, Sergey Litvinov11, Boris Malyarchuk35, Miroslava Derenko35, M. J. Mosher39, David Archer40, Jerome S. Cybulski41, Jerome S. Cybulski42, Barbara Petzelt, Joycelynn Mitchell, Rosita Worl, Paul Norman8, Peter Parham8, Brian M. Kemp14, Toomas Kivisild11, Toomas Kivisild9, Chris Tyler-Smith4, Manjinder S. Sandhu4, Manjinder S. Sandhu43, Michael H. Crawford44, Richard Villems12, Richard Villems11, David Glenn Smith45, Michael R. Waters46, Ted Goebel46, John R. Johnson47, Ripan S. Malhi16, Mattias Jakobsson19, David J. Meltzer1, David J. Meltzer48, Andrea Manica9, Richard Durbin4, Carlos Bustamante8, Yun S. Song3, Rasmus Nielsen3, Eske Willerslev1 
21 Aug 2015-Science
TL;DR: The results suggest that there has been gene flow between some Native Americans from both North and South America and groups related to East Asians and Australo-Melanesians, the latter possibly through an East Asian route that might have included ancestors of modern Aleutian Islanders.
Abstract: How and when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we found that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (ka) and after no more than an 8000-year isolation period in Beringia. After their arrival to the Americas, ancestral Native Americans diversified into two basal genetic branches around 13 ka, one that is now dispersed across North and South America and the other restricted to North America. Subsequent gene flow resulted in some Native Americans sharing ancestry with present-day East Asians (including Siberians) and, more distantly, Australo-Melanesians. Putative "Paleoamerican" relict populations, including the historical Mexican Pericues and South American Fuego-Patagonians, are not directly related to modern Australo-Melanesians as suggested by the Paleoamerican Model.

459 citations

Iosif Lazaridis1, Iosif Lazaridis2, Nick Patterson2, Alissa Mittnik3, Gabriel Renaud4, Swapan Mallick1, Swapan Mallick2, Karola Kirsanow5, Peter H. Sudmant6, Joshua G. Schraiber7, Joshua G. Schraiber6, Sergi Castellano4, Mark Lipson8, Bonnie Berger2, Bonnie Berger8, Christos Economou9, Ruth Bollongino5, Qiaomei Fu4, Kirsten I. Bos3, Susanne Nordenfelt1, Susanne Nordenfelt2, Heng Li1, Heng Li2, Cesare de Filippo4, Kay Prüfer4, Susanna Sawyer4, Cosimo Posth3, Wolfgang Haak10, Fredrik Hallgren11, Elin Fornander11, Nadin Rohland1, Nadin Rohland2, Dominique Delsate12, Michael Francken3, Jean-Michel Guinet12, Joachim Wahl, George Ayodo, Hamza A. Babiker13, Hamza A. Babiker14, Graciela Bailliet, Elena Balanovska, Oleg Balanovsky, Ramiro Barrantes15, Gabriel Bedoya16, Haim Ben-Ami17, Judit Bene18, Fouad Berrada19, Claudio M. Bravi, Francesca Brisighelli20, George B.J. Busby21, Francesco Calì, Mikhail Churnosov22, David E. C. Cole23, Daniel Corach24, Larissa Damba, George van Driem25, Stanislav Dryomov26, Jean-Michel Dugoujon27, Sardana A. Fedorova28, Irene Gallego Romero29, Marina Gubina, Michael F. Hammer30, Brenna M. Henn31, Tor Hervig32, Ugur Hodoglugil33, Aashish R. Jha29, Sena Karachanak-Yankova34, Rita Khusainova35, Elza Khusnutdinova35, Rick A. Kittles30, Toomas Kivisild36, William Klitz7, Vaidutis Kučinskas37, Alena Kushniarevich38, Leila Laredj39, Sergey Litvinov38, Theologos Loukidis40, Theologos Loukidis41, Robert W. Mahley42, Béla Melegh18, Ene Metspalu43, Julio Molina, Joanna L. Mountain, Klemetti Näkkäläjärvi44, Desislava Nesheva34, Thomas B. Nyambo45, Ludmila P. Osipova, Jüri Parik43, Fedor Platonov28, Olga L. Posukh, Valentino Romano46, Francisco Rothhammer47, Francisco Rothhammer48, Igor Rudan14, Ruslan Ruizbakiev49, Hovhannes Sahakyan50, Hovhannes Sahakyan38, Antti Sajantila51, Antonio Salas52, Elena B. Starikovskaya26, Ayele Tarekegn, Draga Toncheva34, Shahlo Turdikulova49, Ingrida Uktveryte37, Olga Utevska53, René Vasquez54, Mercedes Villena54, Mikhail Voevoda55, Cheryl A. Winkler56, Levon Yepiskoposyan50, Pierre Zalloua57, Pierre Zalloua1, Tatijana Zemunik58, Alan Cooper10, Cristian Capelli21, Mark G. Thomas40, Andres Ruiz-Linares40, Sarah A. Tishkoff59, Lalji Singh60, Kumarasamy Thangaraj61, Richard Villems38, Richard Villems43, Richard Villems62, David Comas63, Rem I. Sukernik26, Mait Metspalu38, Matthias Meyer4, Evan E. Eichler6, Joachim Burger5, Montgomery Slatkin7, Svante Pääbo4, Janet Kelso4, David Reich1, David Reich64, David Reich2, Johannes Krause4, Johannes Krause3 
Harvard University1, Broad Institute2, University of Tübingen3, Max Planck Society4, University of Mainz5, University of Washington6, University of California, Berkeley7, Massachusetts Institute of Technology8, Stockholm University9, University of Adelaide10, The Heritage Foundation11, National Museum of Natural History12, Sultan Qaboos University13, University of Edinburgh14, University of Costa Rica15, University of Antioquia16, Rambam Health Care Campus17, University of Pécs18, Al Akhawayn University19, Catholic University of the Sacred Heart20, University of Oxford21, Belgorod State University22, University of Toronto23, University of Buenos Aires24, University of Bern25, Russian Academy of Sciences26, Paul Sabatier University27, North-Eastern Federal University28, University of Chicago29, University of Arizona30, Stony Brook University31, University of Bergen32, Illumina33, Sofia Medical University34, Bashkir State University35, University of Cambridge36, Vilnius University37, Estonian Biocentre38, University of Strasbourg39, University College London40, Amgen41, Gladstone Institutes42, University of Tartu43, University of Oulu44, Muhimbili University of Health and Allied Sciences45, University of Palermo46, University of Chile47, University of Tarapacá48, Academy of Sciences of Uzbekistan49, Armenian National Academy of Sciences50, University of North Texas51, University of Santiago de Compostela52, University of Kharkiv53, Higher University of San Andrés54, Novosibirsk State University55, Leidos56, Lebanese American University57, University of Split58, University of Pennsylvania59, Banaras Hindu University60, Centre for Cellular and Molecular Biology61, Estonian Academy of Sciences62, Pompeu Fabra University63, Howard Hughes Medical Institute64
01 Sep 2014
TL;DR: The authors showed that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, ancient north Eurasians related to Upper Palaeolithic Siberians, who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunters-gatherer related ancestry.
Abstract: We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians, who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these populations' deep relationships and show that early European farmers had ∼44% ancestry from a 'basal Eurasian' population that split before the diversification of other non-African lineages.

442 citations


Cited by
More filters
Journal ArticleDOI
01 Nov 2012-Genetics
TL;DR: A suite of methods for learning about population mixtures are presented, implemented in a software package called ADMIXTOOLS, that support formal tests for whether mixture occurred and make it possible to infer proportions and dates of mixture.
Abstract: Population mixture is an important process in biology. We present a suite of methods for learning about population mixtures, implemented in a software package called ADMIXTOOLS, that support formal tests for whether mixture occurred and make it possible to infer proportions and dates of mixture. We also describe the development of a new single nucleotide polymorphism (SNP) array consisting of 629,433 sites with clearly documented ascertainment that was specifically designed for population genetic analyses and that we genotyped in 934 individuals from 53 diverse populations. To illustrate the methods, we give a number of examples that provide new insights about the history of human admixture. The most striking finding is a clear signal of admixture into northern Europe, with one ancestral population related to present-day Basques and Sardinians and the other related to present-day populations of northeast Asia and the Americas. This likely reflects a history of admixture between Neolithic migrants and the indigenous Mesolithic population of Europe, consistent with recent analyses of ancient bones from Sweden and the sequencing of the genome of the Tyrolean "Iceman."

1,877 citations

Journal ArticleDOI
TL;DR: A multithreaded program suite called ANGSD that can calculate various summary statistics, and perform association mapping and population genetic analyses utilizing the full information in next generation sequencing data by working directly on the raw sequencing data or by using genotype likelihoods.
Abstract: High-throughput DNA sequencing technologies are generating vast amounts of data. Fast, flexible and memory efficient implementations are needed in order to facilitate analyses of thousands of samples simultaneously. We present a multithreaded program suite called ANGSD. This program can calculate various summary statistics, and perform association mapping and population genetic analyses utilizing the full information in next generation sequencing data by working directly on the raw sequencing data or by using genotype likelihoods. The open source c/c++ program ANGSD is available at http://www.popgen.dk/angsd . The program is tested and validated on GNU/Linux systems. The program facilitates multiple input formats including BAM and imputed beagle genotype probability files. The program allow the user to choose between combinations of existing methods and can perform analysis that is not implemented elsewhere.

1,795 citations

Journal ArticleDOI
08 Mar 2018-Nature
TL;DR: Genotype and microbiome data from 1,046 healthy individuals with several distinct ancestral origins who share a relatively common environment are examined, and it is demonstrated that the gut microbiome is not significantly associated with genetic ancestry, and that host genetics have a minor role in determining microbiome composition.
Abstract: Human gut microbiome composition is shaped by multiple factors but the relative contribution of host genetics remains elusive. Here we examine genotype and microbiome data from 1,046 healthy individuals with several distinct ancestral origins who share a relatively common environment, and demonstrate that the gut microbiome is not significantly associated with genetic ancestry, and that host genetics have a minor role in determining microbiome composition. We show that, by contrast, there are significant similarities in the compositions of the microbiomes of genetically unrelated individuals who share a household, and that over 20% of the inter-person microbiome variability is associated with factors related to diet, drugs and anthropometric measurements. We further demonstrate that microbiome data significantly improve the prediction accuracy for many human traits, such as glucose and obesity measures, compared to models that use only host genetic and environmental data. These results suggest that microbiome alterations aimed at improving clinical outcomes may be carried out across diverse genetic backgrounds.

1,683 citations

Journal ArticleDOI
TL;DR: This complete mtDNA tree includes previously published as well as newly identified haplogroups, is easily navigable, will be continuously and regularly updated in the future, and is online available at http://www.phylotree.org.
Abstract: Human mitochondrial DNA is widely used as tool in many fields including evolutionary anthropology and population history, medical genetics, genetic genealogy, and forensic science. Many applications require detailed knowledge about the phylogenetic relationship of mtDNA variants. Although the phylogenetic resolution of global human mtDNA diversity has greatly improved as a result of increasing sequencing efforts of complete mtDNA genomes, an updated overall mtDNA tree is currently not available. In order to facilitate a better use of known mtDNA variation, we have constructed an updated comprehensive phylogeny of global human mtDNA variation, based on both coding- and control region mutations. This complete mtDNA tree includes previously published as well as newly identified haplogroups, is easily navigable, will be continuously and regularly updated in the future, and is online available at http://www.phylotree.org. © 2008 Wiley-Liss, Inc.

1,628 citations

Journal ArticleDOI
22 May 2009-Science
TL;DR: A detailed genetic analysis of most major groups of African populations is provided, suggesting that Africans represent 14 ancestral populations that correlate with self-described ethnicity and shared cultural and/or linguistic properties.
Abstract: Africa is the source of all modern humans, but characterization of genetic variation and of relationships among populations across the continent has been enigmatic. We studied 121 African populations, four African American populations, and 60 non-African populations for patterns of variation at 1327 nuclear microsatellite and insertion/deletion markers. We identified 14 ancestral population clusters in Africa that correlate with self-described ethnicity and shared cultural and/or linguistic properties. We observed high levels of mixed ancestry in most populations, reflecting historical migration events across the continent. Our data also provide evidence for shared ancestry among geographically diverse hunter-gatherer populations (Khoesan speakers and Pygmies). The ancestry of African Americans is predominantly from Niger-Kordofanian (approximately 71%), European (approximately 13%), and other African (approximately 8%) populations, although admixture levels varied considerably among individuals. This study helps tease apart the complex evolutionary history of Africans and African Americans, aiding both anthropological and genetic epidemiologic studies.

1,376 citations