Global diversity, population stratification, and selection of human copy-number variation
Peter H. Sudmant,Swapan Mallick,Swapan Mallick,Bradley J. Nelson,Fereydoun Hormozdiari,Niklas Krumm,John Huddleston,Bradley P. Coe,Carl Baker,Susanne Nordenfelt,Michael J. Bamshad,Lynn B. Jorde,Olga L. Posukh,Olga L. Posukh,Hovhannes Sahakyan,Hovhannes Sahakyan,W. Scott Watkins,Levon Yepiskoposyan,M. Syafiq Abdullah,Claudio M. Bravi,Cristian Capelli,Tor Hervig,Joseph Wee,Chris Tyler-Smith,George van Driem,Irene Gallego Romero,Aashish R. Jha,Sena Karachanak-Yankova,Draga Toncheva,David Comas,Brenna M. Henn,Toomas Kivisild,Andres Ruiz-Linares,Antti Sajantila,Ene Metspalu,Ene Metspalu,Jueri Parik,Richard Villems,Elena B. Starikovskaya,George Ayodo,Cynthia M. Beall,Anna Di Rienzo,Michael F. Hammer,Rita Khusainova,Rita Khusainova,Elza Khusnutdinova,Elza Khusnutdinova,William Klitz,Cheryl A. Winkler,Damian Labuda,Mait Metspalu,Sarah A. Tishkoff,Stanislav Dryomov,Rem I. Sukernik,Nick Patterson,David Reich,David Reich,David Reich,Evan E. Eichler +58 more
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TLDR
The selective constraints of deletions versus duplications were compared to understand population stratification in the context of the ancestral human genome and to assess differences in CNV load between African and non-African populations.Abstract:
In order to explore the diversity and selective signatures of duplication and deletion human copy-number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single-nucleotide-variant base pairs is greater among non-Africans than it is among African populations, but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.read more
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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
Genomic insights into the origin of farming in the ancient Near East
Iosif Lazaridis,Dani Nadel,Gary O. Rollefson,Deborah C. Merrett,Nadin Rohland,Swapan Mallick,Swapan Mallick,Daniel Fernandes,Daniel Fernandes,Mario Novak,Beatriz Gamarra,Kendra Sirak,Kendra Sirak,Sarah Connell,Kristin Stewardson,Eadaoin Harney,Qiaomei Fu,Gloria Gonzalez-Fortes,Eppie R. Jones,Songül Alpaslan Roodenberg,György Lengyel,Fanny Bocquentin,Boris Gasparian,Janet Monge,Michael Gregg,Vered Eshed,Ahuva Sivan Mizrahi,Christopher Meiklejohn,Fokke Gerritsen,Luminita Bejenaru,Matthias Blüher,Archie Campbell,Gianpiero L. Cavalleri,David Comas,Philippe Froguel,Edmund Gilbert,Shona M. Kerr,Peter Kovacs,Johannes Krause,Darren McGettigan,Michael Merrigan,D. Andrew Merriwether,Seamus O’Reilly,Martin B. Richards,Ornella Semino,Michel Shamoon-Pour,Gheorghe Stefanescu,Michael Stumvoll,Anke Tönjes,Antonio Torroni,James F. Wilson,Loic Yengo,Nelli Hovhannisyan,Nick Patterson,Ron Pinhasi,David Reich,David Reich +56 more
TL;DR: This paper reported genome-wide ancient DNA from 44 ancient Near Easterners ranging in time between ~12,000 and 1,400 bc, from Natufian hunter-gatherers to Bronze Age farmers, showing that the earliest populations of the Near East derived around half their ancestry from a 'Basal Eurasian' lineage that had little if any Neanderthal admixture and that separated from other non-African lineages before their separation from each other.
Journal ArticleDOI
Multi-platform discovery of haplotype-resolved structural variation in human genomes
Mark Chaisson,Mark Chaisson,Ashley D. Sanders,Xuefang Zhao,Xuefang Zhao,Ankit Malhotra,David Porubsky,David Porubsky,Tobias Rausch,Eugene J. Gardner,Oscar L. Rodriguez,Li Guo,Ryan L. Collins,Xian Fan,Jia Wen,Robert E. Handsaker,Robert E. Handsaker,Susan Fairley,Zev N. Kronenberg,Xiangmeng Kong,Fereydoun Hormozdiari,Dillon Lee,Aaron M. Wenger,Alex Hastie,Danny Antaki,Thomas Anantharaman,Peter A. Audano,Harrison Brand,Stuart Cantsilieris,Han Cao,Eliza Cerveira,Chong Chen,Xintong Chen,Chen-Shan Chin,Zechen Chong,Nelson T. Chuang,Christine C. Lambert,Deanna M. Church,Laura Clarke,Andrew Farrell,Joey Flores,Timur R. Galeev,David U. Gorkin,David U. Gorkin,Madhusudan Gujral,Victor Guryev,William Haynes Heaton,Jonas Korlach,Sushant Kumar,Jee Young Kwon,Ernest T. Lam,Jong Eun Lee,Joyce V. Lee,Wan-Ping Lee,Sau Peng Lee,Shantao Li,Patrick Marks,Karine A. Viaud-Martinez,Sascha Meiers,Katherine M. Munson,Fabio C. P. Navarro,Bradley J. Nelson,Conor Nodzak,Amina Noor,Sofia Kyriazopoulou-Panagiotopoulou,Andy Wing Chun Pang,Yunjiang Qiu,Yunjiang Qiu,Gabriel Rosanio,Mallory Ryan,Adrian M. Stütz,Diana C.J. Spierings,Alistair Ward,Anne Marie E. Welch,Ming Xiao,Wei Xu,Chengsheng Zhang,Qihui Zhu,Xiangqun Zheng-Bradley,Ernesto Lowy,Sergei Yakneen,Steven A. McCarroll,Steven A. McCarroll,Goo Jun,Li Ding,Chong-Lek Koh,Bing Ren,Bing Ren,Paul Flicek,Ken Chen,Mark Gerstein,Pui-Yan Kwok,Peter M. Lansdorp,Peter M. Lansdorp,Peter M. Lansdorp,Gabor T. Marth,Jonathan Sebat,Xinghua Shi,Ali Bashir,Kai Ye,Scott E. Devine,Michael E. Talkowski,Michael E. Talkowski,Ryan E. Mills,Tobias Marschall,Jan O. Korbel,Evan E. Eichler,Charles Lee +107 more
TL;DR: A suite of long-read, short- read, strand-specific sequencing technologies, optical mapping, and variant discovery algorithms are applied to comprehensively analyze three trios to define the full spectrum of human genetic variation in a haplotype-resolved manner.
Journal ArticleDOI
A high-coverage Neandertal genome from Vindija Cave in Croatia
Kay Prüfer,Cesare de Filippo,Steffi Grote,Fabrizio Mafessoni,Petra Korlević,Mateja Hajdinjak,Benjamin Vernot,Laurits Skov,PingHsun Hsieh,Stéphane Peyrégne,David Reher,Charlotte Hopfe,Sarah Nagel,Tomislav Maricic,Qiaomei Fu,Christoph Theunert,Christoph Theunert,Rebekah L. Rogers,Pontus Skoglund,Manjusha Chintalapati,Michael Dannemann,Bradley J. Nelson,Felix M. Key,Pavao Rudan,Željko Kućan,Ivan Gušić,Liubov V. Golovanova,Vladimir B. Doronichev,Nick Patterson,David Reich,David Reich,David Reich,Evan E. Eichler,Montgomery Slatkin,Mikkel H. Schierup,Aida M. Andrés,Janet Kelso,Matthias Meyer,Svante Pääbo +38 more
TL;DR: The genome of a female Neandertal from ~50,000 years ago from Vindija Cave, Croatia, is sequenced to ~30-fold genomic coverage, allowing 10 to 20% more Ne andertal DNA to be identified in present-day humans, including variants involved in low-density lipoprotein cholesterol concentrations, schizophrenia, and other diseases.
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: 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.
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Henn,Danielle Jones,Jane Kaye,Alastair Kent,Angeliki Kerasidou,Rasika A. Mathias,Pilar N. Ossorio,Michael Parker,Charles N. Rotimi,Charmaine D.M. Royal,Karla Sandoval,Yeyang Su,Zhongming Tian,Sarah A. Tishkoff,Marc Via,Yuhong Wang,Huanming Yang,Ling Yang,Jiayong Zhu,Walter F. Bodmer,Gabriel Bedoya,Zhiming Cai,Yang Gao,Jiayou Chu,Leena Peltonen,Andrés C. García-Montero,Alberto Orfao,Julie Dutil,Juan Carlos Martínez-Cruzado,R. Mathias,Anselm Hennis,Harold Watson,Colin A. McKenzie,Firdausi Qadri,Regina C. LaRocque,Xiaoyan Deng,Danny Asogun,Onikepe A. Folarin,Christian T. Happi,Omonwunmi Omoniwa,Matt Stremlau,Matt Stremlau,Ridhi Tariyal,Ridhi Tariyal,M Jallow,M Jallow,Fatoumatta Sisay Joof,Fatoumatta Sisay Joof,Tumani Corrah,Tumani Corrah,Kirk A. Rockett,Kirk A. Rockett,Dominic P. Kwiatkowski,Dominic P. Kwiatkowski,Jaspal S. Kooner,Tran Tinh Hien,Sarah J. Dunstan,Sarah J. Dunstan,Nguyen ThuyHang,Richard Fonnie,Robert F. Garry,Lansana Kanneh,Lina M. Moses,John S. Schieffelin,Donald S. Grant,Carla Gallo,Giovanni Poletti,Danish Saleheen,Asif Rasheed,Lisa D. Brooks,Adam Felsenfeld,Jean E. McEwen,Yekaterina Vaydylevich,Audrey Duncanson,Michael Dunn,Jeffery A. Schloss +517 more