Literature DB >> 32193295

Insights into human genetic variation and population history from 929 diverse genomes.

Shane A McCarthy1,2, Ruoyun Hui2,3, Mohamed A Almarri1, Yali Xue1, Richard Durbin1,2, Chris Tyler-Smith4, Anders Bergström4,5, Qasim Ayub1,6,7, Petr Danecek1, Yuan Chen1, Sabine Felkel1,8, Pille Hallast1,9, Jack Kamm1,2,10, Hélène Blanché11,12, Jean-François Deleuze11,12, Howard Cann11, Swapan Mallick13,14, David Reich13,14, Manjinder S Sandhu1,15, Pontus Skoglund5, Aylwyn Scally2.   

Abstract

Genome sequences from diverse human groups are needed to understand the structure of genetic variation in our species and the history of, and relationships between, different populations. We present 929 high-coverage genome sequences from 54 diverse human populations, 26 of which are physically phased using linked-read sequencing. Analyses of these genomes reveal an excess of previously undocumented common genetic variation private to southern Africa, central Africa, Oceania, and the Americas, but an absence of such variants fixed between major geographical regions. We also find deep and gradual population separations within Africa, contrasting population size histories between hunter-gatherer and agriculturalist groups in the past 10,000 years, and a contrast between single Neanderthal but multiple Denisovan source populations contributing to present-day human populations.
Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

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Year:  2020        PMID: 32193295      PMCID: PMC7115999          DOI: 10.1126/science.aay5012

Source DB:  PubMed          Journal:  Science        ISSN: 0036-8075            Impact factor:   47.728


  72 in total

1.  Genetic structure of human populations.

Authors:  Noah A Rosenberg; Jonathan K Pritchard; James L Weber; Howard M Cann; Kenneth K Kidd; Lev A Zhivotovsky; Marcus W Feldman
Journal:  Science       Date:  2002-12-20       Impact factor: 47.728

2.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

Authors:  Aaron McKenna; Matthew Hanna; Eric Banks; Andrey Sivachenko; Kristian Cibulskis; Andrew Kernytsky; Kiran Garimella; David Altshuler; Stacey Gabriel; Mark Daly; Mark A DePristo
Journal:  Genome Res       Date:  2010-07-19       Impact factor: 9.043

3.  BEDOPS: high-performance genomic feature operations.

Authors:  Shane Neph; M Scott Kuehn; Alex P Reynolds; Eric Haugen; Robert E Thurman; Audra K Johnson; Eric Rynes; Matthew T Maurano; Jeff Vierstra; Sean Thomas; Richard Sandstrom; Richard Humbert; John A Stamatoyannopoulos
Journal:  Bioinformatics       Date:  2012-05-09       Impact factor: 6.937

4.  Mathematical model for studying genetic variation in terms of restriction endonucleases.

Authors:  M Nei; W H Li
Journal:  Proc Natl Acad Sci U S A       Date:  1979-10       Impact factor: 11.205

5.  Multiple Deeply Divergent Denisovan Ancestries in Papuans.

Authors:  Guy S Jacobs; Georgi Hudjashov; Lauri Saag; Pradiptajati Kusuma; Chelzie C Darusallam; Daniel J Lawson; Mayukh Mondal; Luca Pagani; François-Xavier Ricaut; Mark Stoneking; Mait Metspalu; Herawati Sudoyo; J Stephen Lansing; Murray P Cox
Journal:  Cell       Date:  2019-04-11       Impact factor: 41.582

6.  Ancient human genomes suggest three ancestral populations for present-day Europeans.

Authors:  Iosif Lazaridis; Nick Patterson; Alissa Mittnik; Gabriel Renaud; Swapan Mallick; Karola Kirsanow; Peter H Sudmant; Joshua G Schraiber; Sergi Castellano; Mark Lipson; Bonnie Berger; Christos Economou; Ruth Bollongino; Qiaomei Fu; Kirsten I Bos; Susanne Nordenfelt; Heng Li; Cesare de Filippo; Kay Prüfer; Susanna Sawyer; Cosimo Posth; Wolfgang Haak; Fredrik Hallgren; Elin Fornander; Nadin Rohland; Dominique Delsate; Michael Francken; Jean-Michel Guinet; Joachim Wahl; George Ayodo; 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 Cali; 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 Hammer; Brenna M Henn; Tor Hervig; Ugur Hodoglugil; Aashish R Jha; Sena Karachanak-Yankova; Rita Khusainova; Elza Khusnutdinova; Rick Kittles; Toomas Kivisild; William Klitz; Vaidutis Kučinskas; Alena Kushniarevich; Leila Laredj; Sergey Litvinov; Theologos Loukidis; Robert W Mahley; Béla Melegh; Ene Metspalu; Julio Molina; Joanna Mountain; Klemetti Näkkäläjärvi; Desislava Nesheva; Thomas Nyambo; Ludmila Osipova; Jüri Parik; Fedor Platonov; Olga Posukh; Valentino Romano; Francisco Rothhammer; Igor Rudan; Ruslan Ruizbakiev; 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; Tatijana Zemunik; Alan Cooper; Cristian Capelli; Mark G Thomas; Andres Ruiz-Linares; Sarah A Tishkoff; Lalji Singh; Kumarasamy Thangaraj; Richard Villems; David Comas; Rem Sukernik; Mait Metspalu; Matthias Meyer; Evan E Eichler; Joachim Burger; Montgomery Slatkin; Svante Pääbo; Janet Kelso; David Reich; Johannes Krause
Journal:  Nature       Date:  2014-09-18       Impact factor: 49.962

7.  Genetic evidence for two founding populations of the Americas.

Authors:  Pontus Skoglund; Swapan Mallick; Maria Cátira Bortolini; Niru Chennagiri; Tábita Hünemeier; Maria Luiza Petzl-Erler; Francisco Mauro Salzano; Nick Patterson; David Reich
Journal:  Nature       Date:  2015-07-21       Impact factor: 49.962

8.  Variation graph toolkit improves read mapping by representing genetic variation in the reference.

Authors:  Erik Garrison; Jouni Sirén; Adam M Novak; Glenn Hickey; Jordan M Eizenga; Eric T Dawson; William Jones; Shilpa Garg; Charles Markello; Michael F Lin; Benedict Paten; Richard Durbin
Journal:  Nat Biotechnol       Date:  2018-08-20       Impact factor: 54.908

9.  A Neolithic expansion, but strong genetic structure, in the independent history of New Guinea.

Authors:  Anders Bergström; Stephen J Oppenheimer; Alexander J Mentzer; Kathryn Auckland; Kathryn Robson; Robert Attenborough; Michael P Alpers; George Koki; William Pomat; Peter Siba; Yali Xue; Manjinder S Sandhu; Chris Tyler-Smith
Journal:  Science       Date:  2017-09-15       Impact factor: 47.728

10.  Genomic analyses inform on migration events during the peopling of Eurasia.

Authors:  Luca Pagani; Daniel John Lawson; Evelyn Jagoda; Alexander Mörseburg; Anders Eriksson; Richard Villems; Eske Willerslev; Toomas Kivisild; Mait Metspalu; Mario Mitt; Florian Clemente; Georgi Hudjashov; Michael DeGiorgio; Lauri Saag; Jeffrey D Wall; Alexia Cardona; Reedik Mägi; Melissa A Wilson Sayres; Sarah Kaewert; Charlotte Inchley; Christiana L Scheib; Mari Järve; Monika Karmin; Guy S Jacobs; Tiago Antao; Florin Mircea Iliescu; Alena Kushniarevich; Qasim Ayub; Chris Tyler-Smith; Yali Xue; Bayazit Yunusbayev; Kristiina Tambets; Chandana Basu Mallick; Lehti Saag; Elvira Pocheshkhova; George Andriadze; Craig Muller; Michael C Westaway; David M Lambert; Grigor Zoraqi; Shahlo Turdikulova; Dilbar Dalimova; Zhaxylyk Sabitov; Gazi Nurun Nahar Sultana; Joseph Lachance; Sarah Tishkoff; Kuvat Momynaliev; Jainagul Isakova; Larisa D Damba; Marina Gubina; Pagbajabyn Nymadawa; Irina Evseeva; Lubov Atramentova; Olga Utevska; François-Xavier Ricaut; Nicolas Brucato; Herawati Sudoyo; Thierry Letellier; Murray P Cox; Nikolay A Barashkov; Vedrana Skaro; Lejla Mulahasanovic; Dragan Primorac; Hovhannes Sahakyan; Maru Mormina; Christina A Eichstaedt; Daria V Lichman; Syafiq Abdullah; Gyaneshwer Chaubey; Joseph T S Wee; Evelin Mihailov; Alexandra Karunas; Sergei Litvinov; Rita Khusainova; Natalya Ekomasova; Vita Akhmetova; Irina Khidiyatova; Damir Marjanović; Levon Yepiskoposyan; Doron M Behar; Elena Balanovska; Andres Metspalu; Miroslava Derenko; Boris Malyarchuk; Mikhail Voevoda; Sardana A Fedorova; Ludmila P Osipova; Marta Mirazón Lahr; Pascale Gerbault; Matthew Leavesley; Andrea Bamberg Migliano; Michael Petraglia; Oleg Balanovsky; Elza K Khusnutdinova; Ene Metspalu; Mark G Thomas; Andrea Manica; Rasmus Nielsen
Journal:  Nature       Date:  2016-09-21       Impact factor: 49.962

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  126 in total

Review 1.  Methods for detecting introgressed archaic sequences.

Authors:  Sriram Sankararaman
Journal:  Curr Opin Genet Dev       Date:  2020-07-24       Impact factor: 5.578

Review 2.  Origins of modern human ancestry.

Authors:  Anders Bergström; Chris Stringer; Mateja Hajdinjak; Eleanor M L Scerri; Pontus Skoglund
Journal:  Nature       Date:  2021-02-10       Impact factor: 49.962

3.  Paleo-ENSO influence on African environments and early modern humans.

Authors:  Stefanie Kaboth-Bahr; William D Gosling; Ralf Vogelsang; André Bahr; Eleanor M L Scerri; Asfawossen Asrat; Andrew S Cohen; Walter Düsing; Verena Foerster; Henry F Lamb; Mark A Maslin; Helen M Roberts; Frank Schäbitz; Martin H Trauth
Journal:  Proc Natl Acad Sci U S A       Date:  2021-06-08       Impact factor: 11.205

Review 4.  Fostering Responsible Research on Ancient DNA.

Authors:  Jennifer K Wagner; Chip Colwell; Katrina G Claw; Anne C Stone; Deborah A Bolnick; John Hawks; Kyle B Brothers; Nanibaa' A Garrison
Journal:  Am J Hum Genet       Date:  2020-08-06       Impact factor: 11.025

5.  Population-specific reference panels are crucial for genetic analyses: an example of the CREBRF locus in Native Hawaiians.

Authors:  Meng Lin; Christian Caberto; Peggy Wan; Yuqing Li; Annette Lum-Jones; Maarit Tiirikainen; Loreall Pooler; Brooke Nakamura; Xin Sheng; Jacqueline Porcel; Unhee Lim; Veronica Wendy Setiawan; Loïc Le Marchand; Lynne R Wilkens; Christopher A Haiman; Iona Cheng; Charleston W K Chiang
Journal:  Hum Mol Genet       Date:  2020-08-03       Impact factor: 6.150

6.  Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility.

Authors:  Wesley C Warren; R Alan Harris; Marina Haukness; Ian T Fiddes; Shwetha C Murali; Jason Fernandes; Philip C Dishuck; Jessica M Storer; Muthuswamy Raveendran; LaDeana W Hillier; David Porubsky; Yafei Mao; David Gordon; Mitchell R Vollger; Alexandra P Lewis; Katherine M Munson; Elizabeth DeVogelaere; Joel Armstrong; Mark Diekhans; Jerilyn A Walker; Chad Tomlinson; Tina A Graves-Lindsay; Milinn Kremitzki; Sofie R Salama; Peter A Audano; Merly Escalona; Nicholas W Maurer; Francesca Antonacci; Ludovica Mercuri; Flavia A M Maggiolini; Claudia Rita Catacchio; Jason G Underwood; David H O'Connor; Ashley D Sanders; Jan O Korbel; Betsy Ferguson; H Michael Kubisch; Louis Picker; Ned H Kalin; Douglas Rosene; Jon Levine; David H Abbott; Stanton B Gray; Mar M Sanchez; Zsofia A Kovacs-Balint; Joseph W Kemnitz; Sara M Thomasy; Jeffrey A Roberts; Erin L Kinnally; John P Capitanio; J H Pate Skene; Michael Platt; Shelley A Cole; Richard E Green; Mario Ventura; Roger W Wiseman; Benedict Paten; Mark A Batzer; Jeffrey Rogers; Evan E Eichler
Journal:  Science       Date:  2020-12-18       Impact factor: 47.728

7.  Widespread Denisovan ancestry in Island Southeast Asia but no evidence of substantial super-archaic hominin admixture.

Authors:  Raymond Tobler; Chris S M Turney; Alan Cooper; Kristofer M Helgen; João C Teixeira; Guy S Jacobs; Chris Stringer; Jonathan Tuke; Georgi Hudjashov; Gludhug A Purnomo; Herawati Sudoyo; Murray P Cox
Journal:  Nat Ecol Evol       Date:  2021-03-22       Impact factor: 15.460

8.  Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.

Authors:  Emily Mira Warshauer; Adam Brown; Ignacia Fuentes; Jonathan Shortt; Chris Gignoux; Francesco Montinaro; Mait Metspalu; Leila Youssefian; Hassan Vahidnezhad; Joanna Jacków; Angela M Christiano; Jouni Uitto; Óscar R Fajardo-Ramírez; Julio C Salas-Alanis; John A McGrath; Liliana Consuegra; Carolina Rivera; Paul A Maier; Goran Runfeldt; Doron M Behar; Karl Skorecki; Eli Sprecher; Francis Palisson; David A Norris; Anna L Bruckner; Igor Kogut; Ganna Bilousova; Dennis R Roop
Journal:  Am J Med Genet A       Date:  2021-08-26       Impact factor: 2.802

9.  The timing and effect of the earliest human arrivals in North America.

Authors:  Lorena Becerra-Valdivia; Thomas Higham
Journal:  Nature       Date:  2020-07-22       Impact factor: 49.962

Review 10.  Peopling of the Americas as inferred from ancient genomics.

Authors:  Eske Willerslev; David J Meltzer
Journal:  Nature       Date:  2021-06-16       Impact factor: 49.962

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