Genomic analyses inform on migration events during the peopling of Eurasia

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...

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Main Authors: Pagani, L, Lawson, DJ, Jagoda, E, Mörseburg, A, Eriksson, A, Mitt, M, Clemente, F, Hudjashov, G, Degiorgio, M, Saag, L, Wall, JD, Cardona, A, Mägi, R, Sayres, MAW, Kaewert, S, Inchley, C, Scheib, CL, Järve, M, Karmin, M, Jacobs, GS, Antao, T, Iliescu, FM, Kushniarevich, A, Ayub, Q, Tyler-Smith, C, Xue, Y, Yunusbayev, B, Tambets, K, Mallick, CB, Pocheshkhova, E, Andriadze, G, Muller, C, Westaway, MC, Lambert, DM, Zoraqi, G, Turdikulova, S, Dalimova, D, Sabitov, Z, Sultana, GNN, Lachance, J, Tishkoff, S, Momynaliev, K, Isakova, J, Damba, LD, Gubina, M, Nymadawa, P, Evseeva, I, Atramentova, L, Utevska, O, Ricaut, F-X, Brucato, N, Sudoyo, H, Letellier, T, Cox, MP, Barashkov, NA, Škaro, V, Mulahasanovic´, L, Primorac, D, Sahakyan, H, Mormina, M, Eichstaedt, CA, Lichman, DV, Abdullah, S, Chaubey, G, Wee, JTS, Mihailov, E, Karunas, A, Litvinov, S, Khusainova, R, Ekomasova, N, Akhmetova, V, Khidiyatova, I, Marjanović, D, Yepiskoposyan, L, Behar, DM, Balanovska, E, Metspalu, A, Derenko, M, Malyarchuk, B, Voevoda, M, Fedorova, SA, Osipova, LP, Lahr, MM, Gerbault, P, Leavesley, M, Migliano, AB, Petraglia, M, Balanovsky, O, Khusnutdinova, EK, Metspalu, E, Thomas, MG, Manica, A, Nielsen, R, Villems, R, Willerslev, E, Kivisild, T, Metspalu, M
Format: Journal article
Language:English
Published: Springer Nature 2016
_version_ 1826295628086378496
author Pagani, L
Lawson, DJ
Jagoda, E
Mörseburg, A
Eriksson, A
Mitt, M
Clemente, F
Hudjashov, G
Degiorgio, M
Saag, L
Wall, JD
Cardona, A
Mägi, R
Sayres, MAW
Kaewert, S
Inchley, C
Scheib, CL
Järve, M
Karmin, M
Jacobs, GS
Antao, T
Iliescu, FM
Kushniarevich, A
Ayub, Q
Tyler-Smith, C
Xue, Y
Yunusbayev, B
Tambets, K
Mallick, CB
Saag, L
Pocheshkhova, E
Andriadze, G
Muller, C
Westaway, MC
Lambert, DM
Zoraqi, G
Turdikulova, S
Dalimova, D
Sabitov, Z
Sultana, GNN
Lachance, J
Tishkoff, S
Momynaliev, K
Isakova, J
Damba, LD
Gubina, M
Nymadawa, P
Evseeva, I
Atramentova, L
Utevska, O
Ricaut, F-X
Brucato, N
Sudoyo, H
Letellier, T
Cox, MP
Barashkov, NA
Škaro, V
Mulahasanovic´, L
Primorac, D
Sahakyan, H
Mormina, M
Eichstaedt, CA
Lichman, DV
Abdullah, S
Chaubey, G
Wee, JTS
Mihailov, E
Karunas, A
Litvinov, S
Khusainova, R
Ekomasova, N
Akhmetova, V
Khidiyatova, I
Marjanović, D
Yepiskoposyan, L
Behar, DM
Balanovska, E
Metspalu, A
Derenko, M
Malyarchuk, B
Voevoda, M
Fedorova, SA
Osipova, LP
Lahr, MM
Gerbault, P
Leavesley, M
Migliano, AB
Petraglia, M
Balanovsky, O
Khusnutdinova, EK
Metspalu, E
Thomas, MG
Manica, A
Nielsen, R
Villems, R
Willerslev, E
Kivisild, T
Metspalu, M
author_facet Pagani, L
Lawson, DJ
Jagoda, E
Mörseburg, A
Eriksson, A
Mitt, M
Clemente, F
Hudjashov, G
Degiorgio, M
Saag, L
Wall, JD
Cardona, A
Mägi, R
Sayres, MAW
Kaewert, S
Inchley, C
Scheib, CL
Järve, M
Karmin, M
Jacobs, GS
Antao, T
Iliescu, FM
Kushniarevich, A
Ayub, Q
Tyler-Smith, C
Xue, Y
Yunusbayev, B
Tambets, K
Mallick, CB
Saag, L
Pocheshkhova, E
Andriadze, G
Muller, C
Westaway, MC
Lambert, DM
Zoraqi, G
Turdikulova, S
Dalimova, D
Sabitov, Z
Sultana, GNN
Lachance, J
Tishkoff, S
Momynaliev, K
Isakova, J
Damba, LD
Gubina, M
Nymadawa, P
Evseeva, I
Atramentova, L
Utevska, O
Ricaut, F-X
Brucato, N
Sudoyo, H
Letellier, T
Cox, MP
Barashkov, NA
Škaro, V
Mulahasanovic´, L
Primorac, D
Sahakyan, H
Mormina, M
Eichstaedt, CA
Lichman, DV
Abdullah, S
Chaubey, G
Wee, JTS
Mihailov, E
Karunas, A
Litvinov, S
Khusainova, R
Ekomasova, N
Akhmetova, V
Khidiyatova, I
Marjanović, D
Yepiskoposyan, L
Behar, DM
Balanovska, E
Metspalu, A
Derenko, M
Malyarchuk, B
Voevoda, M
Fedorova, SA
Osipova, LP
Lahr, MM
Gerbault, P
Leavesley, M
Migliano, AB
Petraglia, M
Balanovsky, O
Khusnutdinova, EK
Metspalu, E
Thomas, MG
Manica, A
Nielsen, R
Villems, R
Willerslev, E
Kivisild, T
Metspalu, M
author_sort Pagani, L
collection OXFORD
description 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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spelling oxford-uuid:c5854e59-da7e-45a6-9601-138ca23043cc2022-03-27T06:31:49ZGenomic analyses inform on migration events during the peopling of EurasiaJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:c5854e59-da7e-45a6-9601-138ca23043ccEnglishSymplectic Elements at OxfordSpringer Nature2016Pagani, LLawson, DJJagoda, EMörseburg, AEriksson, AMitt, MClemente, FHudjashov, GDegiorgio, MSaag, LWall, JDCardona, AMägi, RSayres, MAWKaewert, SInchley, CScheib, CLJärve, MKarmin, MJacobs, GSAntao, TIliescu, FMKushniarevich, AAyub, QTyler-Smith, CXue, YYunusbayev, BTambets, KMallick, CBSaag, LPocheshkhova, EAndriadze, GMuller, CWestaway, MCLambert, DMZoraqi, GTurdikulova, SDalimova, DSabitov, ZSultana, GNNLachance, JTishkoff, SMomynaliev, KIsakova, JDamba, LDGubina, MNymadawa, PEvseeva, IAtramentova, LUtevska, ORicaut, F-XBrucato, NSudoyo, HLetellier, TCox, MPBarashkov, NAŠkaro, VMulahasanovic´, LPrimorac, DSahakyan, HMormina, MEichstaedt, CALichman, DVAbdullah, SChaubey, GWee, JTSMihailov, EKarunas, ALitvinov, SKhusainova, REkomasova, NAkhmetova, VKhidiyatova, IMarjanović, DYepiskoposyan, LBehar, DMBalanovska, EMetspalu, ADerenko, MMalyarchuk, BVoevoda, MFedorova, SAOsipova, LPLahr, MMGerbault, PLeavesley, MMigliano, ABPetraglia, MBalanovsky, OKhusnutdinova, EKMetspalu, EThomas, MGManica, ANielsen, RVillems, RWillerslev, EKivisild, TMetspalu, MHigh-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.
spellingShingle Pagani, L
Lawson, DJ
Jagoda, E
Mörseburg, A
Eriksson, A
Mitt, M
Clemente, F
Hudjashov, G
Degiorgio, M
Saag, L
Wall, JD
Cardona, A
Mägi, R
Sayres, MAW
Kaewert, S
Inchley, C
Scheib, CL
Järve, M
Karmin, M
Jacobs, GS
Antao, T
Iliescu, FM
Kushniarevich, A
Ayub, Q
Tyler-Smith, C
Xue, Y
Yunusbayev, B
Tambets, K
Mallick, CB
Saag, L
Pocheshkhova, E
Andriadze, G
Muller, C
Westaway, MC
Lambert, DM
Zoraqi, G
Turdikulova, S
Dalimova, D
Sabitov, Z
Sultana, GNN
Lachance, J
Tishkoff, S
Momynaliev, K
Isakova, J
Damba, LD
Gubina, M
Nymadawa, P
Evseeva, I
Atramentova, L
Utevska, O
Ricaut, F-X
Brucato, N
Sudoyo, H
Letellier, T
Cox, MP
Barashkov, NA
Škaro, V
Mulahasanovic´, L
Primorac, D
Sahakyan, H
Mormina, M
Eichstaedt, CA
Lichman, DV
Abdullah, S
Chaubey, G
Wee, JTS
Mihailov, E
Karunas, A
Litvinov, S
Khusainova, R
Ekomasova, N
Akhmetova, V
Khidiyatova, I
Marjanović, D
Yepiskoposyan, L
Behar, DM
Balanovska, E
Metspalu, A
Derenko, M
Malyarchuk, B
Voevoda, M
Fedorova, SA
Osipova, LP
Lahr, MM
Gerbault, P
Leavesley, M
Migliano, AB
Petraglia, M
Balanovsky, O
Khusnutdinova, EK
Metspalu, E
Thomas, MG
Manica, A
Nielsen, R
Villems, R
Willerslev, E
Kivisild, T
Metspalu, M
Genomic analyses inform on migration events during the peopling of Eurasia
title Genomic analyses inform on migration events during the peopling of Eurasia
title_full Genomic analyses inform on migration events during the peopling of Eurasia
title_fullStr Genomic analyses inform on migration events during the peopling of Eurasia
title_full_unstemmed Genomic analyses inform on migration events during the peopling of Eurasia
title_short Genomic analyses inform on migration events during the peopling of Eurasia
title_sort genomic analyses inform on migration events during the peopling of eurasia
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