Genomic analyses inform on migration events during the peopling of Eurasia

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

High-coverage whole-genome sequence studies have so far focused on a limited number1 of geographically restricted populations2,3,4,5, or been targeted at specific diseases, such as cancer6. Nevertheless, the availability of high-resolution genomic data has led to the development of new methodologies for inferring population history7,8,9 and refuelled the debate on the mutation rate in humans10. 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 record11, and admixture between AMHs and Neanderthals predating the main Eurasian expansion12, our results contribute to the mounting evidence for the presence of AMHs out of Africa earlier than 75,000 years ago.

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Nature

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538

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Genomics

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