The complete genome sequence of a Neanderthal from the Altai Mountains
Kay Prüfer,Fernando Racimo,Nick Patterson,Flora Jay,Sriram Sankararaman,Susanna Sawyer,Anja Heinze,Gabriel Renaud,Peter H. Sudmant,Cesare de Filippo,Heng Li,Swapan Mallick,Michael Dannemann,Qiaomei Fu,Martin Kircher,Martin Kuhlwilm,Michael Lachmann,Matthias Meyer,Matthias Ongyerth,Michael Siebauer,Christoph Theunert,Arti Tandon,Priya Moorjani,Joseph K. Pickrell,James C. Mullikin,Samuel H. Vohr,Richard E. Green,Ines Hellmann,Philip L. F. Johnson,Hélène Blanché,Howard M. Cann,Jacob O. Kitzman,Jay Shendure,Evan E. Eichler,Ed S. Lein,Trygve E. Bakken,Liubov V. Golovanova,Vladimir B. Doronichev,Michael V. Shunkov,A.P. Derevianko,Bence Viola,Montgomery Slatkin,David Reich,Janet Kelso,Svante Pääbo +44 more
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It is shown that interbreeding, albeit of low magnitude, occurred among many hominin groups in the Late Pleistocene and a definitive list of substitutions that became fixed in modern humans after their separation from the ancestors of Neanderthals and Denisovans is established.Abstract:
We present a high-quality genome sequence of a Neanderthal woman from Siberia. We show that her parents were related at the level of half-siblings and that mating among close relatives was common among her recent ancestors. We also sequenced the genome of a Neanderthal from the Caucasus to low coverage. An analysis of the relationships and population history of available archaic genomes and 25 present-day human genomes shows that several gene flow events occurred among Neanderthals, Denisovans and early modern humans, possibly including gene flow into Denisovans from an unknown archaic group. Thus, interbreeding, albeit of low magnitude, occurred among many hominin groups in the Late Pleistocene. In addition, the high-quality Neanderthal genome allows us to establish a definitive list of substitutions that became fixed in modern humans after their separation from the ancestors of Neanderthals and Denisovans.read more
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Ancient DNA and the rewriting of human history: be sparing with Occam's razor.
TL;DR: Some of the key events in the peopling of the world in the light of the findings of work on ancient DNA are reviewed.
Journal ArticleDOI
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
Swapan Mallick,Swapan Mallick,Swapan Mallick,Heng Li,Mark Lipson,Iain Mathieson,Melissa Gymrek,Fernando Racimo,Mengyao Zhao,Mengyao Zhao,Mengyao Zhao,Niru Chennagiri,Niru Chennagiri,Niru Chennagiri,Susanne Nordenfelt,Susanne Nordenfelt,Susanne Nordenfelt,Arti Tandon,Arti Tandon,Pontus Skoglund,Pontus Skoglund,Iosif Lazaridis,Iosif Lazaridis,Sriram Sankararaman,Sriram Sankararaman,Sriram Sankararaman,Qiaomei Fu,Qiaomei Fu,Qiaomei Fu,Nadin Rohland,Nadin Rohland,Gabriel Renaud,Yaniv Erlich,Thomas Willems,Carla Gallo,Jeffrey P. Spence,Yun S. Song,Yun S. Song,Giovanni Poletti,Francois Balloux,George van Driem,Peter de Knijff,Irene Gallego Romero,Aashish R. Jha,Doron M. Behar,Claudio M. Bravi,Cristian Capelli,Tor Hervig,Andrés Moreno-Estrada,Olga L. Posukh,Elena Balanovska,Oleg Balanovsky,Sena Karachanak-Yankova,Hovhannes Sahakyan,Hovhannes Sahakyan,Draga Toncheva,Levon Yepiskoposyan,Chris Tyler-Smith,Yali Xue,M. Syafiq Abdullah,Andres Ruiz-Linares,Cynthia M. Beall,Anna Di Rienzo,Choongwon Jeong,Elena B. Starikovskaya,Ene Metspalu,Ene Metspalu,Jüri Parik,Richard Villems,Richard Villems,Richard Villems,Brenna M. Henn,Ugur Hodoglugil,Robert W. Mahley,Antti Sajantila,George Stamatoyannopoulos,Joseph Wee,Rita Khusainova,Elza Khusnutdinova,Sergey Litvinov,Sergey Litvinov,George Ayodo,David Comas,Michael F. Hammer,Toomas Kivisild,Toomas Kivisild,William Klitz,Cheryl A. Winkler,Damian Labuda,Michael J. Bamshad,Lynn B. Jorde,Sarah A. Tishkoff,W. Scott Watkins,Mait Metspalu,Stanislav Dryomov,Rem I. Sukernik,Lalji Singh,Lalji Singh,Kumarasamy Thangaraj,Svante Pääbo,Janet Kelso,Nick Patterson,David Reich,David Reich,David Reich +104 more
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.
Journal ArticleDOI
Ancient human genomes suggest three ancestral populations for present-day Europeans
Iosif Lazaridis,Iosif Lazaridis,Nick Patterson,Alissa Mittnik,Gabriel Renaud,Swapan Mallick,Swapan Mallick,Karola Kirsanow,Peter H. Sudmant,Joshua G. Schraiber,Joshua G. Schraiber,Sergi Castellano,Mark Lipson,Bonnie Berger,Bonnie Berger,Christos Economou,Ruth Bollongino,Qiaomei Fu,Kirsten I. Bos,Susanne Nordenfelt,Susanne Nordenfelt,Heng Li,Heng Li,Cesare de Filippo,Kay Prüfer,Susanna Sawyer,Cosimo Posth,Wolfgang Haak,Fredrik Hallgren,Elin Fornander,Nadin Rohland,Nadin Rohland,Dominique Delsate,Michael Francken,Jean-Michel Guinet,Joachim Wahl,George Ayodo,Hamza A. Babiker,Hamza A. Babiker,Graciela Bailliet,Elena Balanovska,Oleg Balanovsky,Ramiro Barrantes,Gabriel Bedoya,Haim Ben-Ami,Judit Bene,Fouad Berrada,Claudio M. Bravi,Francesca Brisighelli,George B.J. Busby,Francesco Calì,Mikhail Churnosov,David E. C. Cole,Daniel Corach,Larissa Damba,George van Driem,Stanislav Dryomov,Jean-Michel Dugoujon,Sardana A. Fedorova,Irene Gallego Romero,Marina Gubina,Michael F. Hammer,Brenna M. Henn,Tor Hervig,Ugur Hodoglugil,Aashish R. Jha,Sena Karachanak-Yankova,Rita Khusainova,Elza Khusnutdinova,Rick A. Kittles,Toomas Kivisild,William Klitz,Vaidutis Kučinskas,Alena Kushniarevich,Leila Laredj,Sergey Litvinov,Theologos Loukidis,Theologos Loukidis,Robert W. Mahley,Béla Melegh,Ene Metspalu,Julio Molina,Joanna L. Mountain,Klemetti Näkkäläjärvi,Desislava Nesheva,Thomas B. Nyambo,Ludmila P. Osipova,Jüri Parik,Fedor Platonov,Olga L. Posukh,Valentino Romano,Francisco Rothhammer,Francisco Rothhammer,Igor Rudan,Ruslan Ruizbakiev,Hovhannes Sahakyan,Hovhannes Sahakyan,Antti Sajantila,Antonio Salas,Elena B. Starikovskaya,Ayele Tarekegn,Draga Toncheva,Shahlo Turdikulova,Ingrida Uktveryte,Olga Utevska,René Vasquez,Mercedes Villena,Mikhail Voevoda,Cheryl A. Winkler,Levon Yepiskoposyan,Pierre Zalloua,Pierre Zalloua,Tatijana Zemunik,Alan Cooper,Cristian Capelli,Mark G. Thomas,Andres Ruiz-Linares,Sarah A. Tishkoff,Lalji Singh,Kumarasamy Thangaraj,Richard Villems,Richard Villems,Richard Villems,David Comas,Rem I. Sukernik,Mait Metspalu,Matthias Meyer,Evan E. Eichler,Joachim Burger,Montgomery Slatkin,Svante Pääbo,Janet Kelso,David Reich,David Reich,David Reich,Johannes Krause,Johannes Krause +136 more
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.
Journal ArticleDOI
Inferring human population size and separation history from multiple genome sequences
Stephan Schiffels,Richard Durbin +1 more
TL;DR: Results from applying multiple sequentially Markovian coalescent (MSMC) to genome sequences from nine populations across the world suggest that the genetic separation of non-African ancestors from African Yoruban ancestors started long before 50,000 years ago and give information about human population history as recent as 2,000 Years ago.
Journal ArticleDOI
Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA
Emilia Huerta-Sanchez,Xin Jin,Asan,Zhuoma Bianba,Benjamin M. Peter,Nicolas Vinckenbosch,Yu Liang,Xin Yi,Mingze He,Mehmet Somel,Peixiang Ni,Bo Wang,Xiaohua Ou,Huasang,Jiangbai Luosang,Zha Xi Ping Cuo,Kui Li,Guoyi Gao,Ye Yin,Wei Wang,Xiuqing Zhang,Xun Xu,Huanming Yang,Yingrui Li,Jian Wang,Jun Wang,Rasmus Nielsen +26 more
TL;DR: Re-sequencing the region around EPAS1 in 40 Tibetan and 40 Han individuals finds that this gene has a highly unusual haplotype structure that can only be convincingly explained by introgression of DNA from Denisovan or Denisovan-related individuals into humans.
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Gonçalo R. Abecasis,Adam Auton,Lisa D. Brooks,Mark A. DePristo,Richard Durbin,Robert E. Handsaker,Robert E. Handsaker,Hyun Min Kang,Gabor T. Marth,Gil McVean +9 more
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Table S2: Trans-factors and trinucleotide repeat instability Trans-factor
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A Draft Sequence of the Neandertal Genome
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Inference of human population history from individual whole-genome sequences
Heng Li,Richard Durbin +1 more
TL;DR: A more detailed history of human population sizes between approximately ten thousand and a million years ago is presented, using the pairwise sequentially Markovian coalescent model applied to the complete diploid genome sequences of a Chinese male, a Korean male, three European individuals, and two Yoruba males.
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