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Research Publication

Ancient human genome sequence of an extinct Palaeo-Eskimo

Rasmussen M, Li Y, Lindgreen S et al.

20148029 PubMed ID
52 Authors
02/11/2010 Published
2 Samples
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

RM
Rasmussen M
LY
Li Y
LS
Lindgreen S
PJ
Pedersen JS
AA
Albrechtsen A
MI
Moltke I
MM
Metspalu M
ME
Metspalu E
KT
Kivisild T
GR
Gupta R
BM
Bertalan M
NK
Nielsen K
GM
Gilbert MT
WY
Wang Y
RM
Raghavan M
CP
Campos PF
KH
Kamp HM
WA
Wilson AS
GA
Gledhill A
TS
Tridico S
BM
Bunce M
LE
Lorenzen ED
BJ
Binladen J
GX
Guo X
ZJ
Zhao J
ZX
Zhang X
ZH
Zhang H
LZ
Li Z
CM
Chen M
OL
Orlando L
KK
Kristiansen K
BM
Bak M
TN
Tommerup N
BC
Bendixen C
PT
Pierre TL
GB
Grønnow B
MM
Meldgaard M
AC
Andreasen C
FS
Fedorova SA
OL
Osipova LP
HT
Higham TF
RC
Ramsey CB
HT
Hansen TV
NF
Nielsen FC
CM
Crawford MH
BS
Brunak S
ST
Sicheritz-Pontén T
VR
Villems R
NR
Nielsen R
KA
Krogh A
WJ
Wang J
WE
Willerslev E
Chapter II

Abstract

Summary of the research findings

We report here the genome sequence of an ancient human. Obtained from approximately 4,000-year-old permafrost-preserved hair, the genome represents a male individual from the first known culture to settle in Greenland. Sequenced to an average depth of 20x, we recover 79% of the diploid genome, an amount close to the practical limit of current sequencing technologies. We identify 353,151 high-confidence single-nucleotide polymorphisms (SNPs), of which 6.8% have not been reported previously. We estimate raw read contamination to be no higher than 0.8%. We use functional SNP assessment to assign possible phenotypic characteristics of the individual that belonged to a culture whose location has yielded only trace human remains. We compare the high-confidence SNPs to those of contemporary populations to find the populations most closely related to the individual. This provides evidence for a migration from Siberia into the New World some 5,500 years ago, independent of that giving rise to the modern Native Americans and Inuit.

Chapter III

Ancient DNA Samples

2 ancient DNA samples referenced in this publication

2 Samples
Sample ID Date/Era Country Locality Sex mtDNA Y-DNA
Inuk 2220 BCE Greenland Qeqertasussuk M D2a1* Q-Z36017
Inuk 2220 BCE Greenland Qeqertasussuk M D2a1* Q-Z36017
Chapter IV

Analysis

Comprehensive review of ancestry and genetic findings

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Summary

Key Findings

Ancestry Insights

Traits Analysis

Historical Context

Scientific Assessment