TY - JOUR
T1 - Ancient human genome sequence of an extinct Palaeo-Eskimo
AU - Rasmussen, Morten
AU - Li, Yingrui
AU - Lindgreen, Stinus
AU - Pedersen, Jakob Skou
AU - Albrechtsen, Anders
AU - Moltke, Ida
AU - Metspalu, Mait
AU - Metspalu, Ene
AU - Kivisild, Toomas
AU - Gupta, Ramneek
AU - Bertalan, Marcelo
AU - Nielsen, Kasper
AU - Gilbert, Tom
AU - Wang, Yong
AU - Raghavan, Maanasa
AU - Campos, Paula
AU - Kamp, Hanne Louise Munkholm
AU - Wilson, Andrew S.
AU - Gledhill, Andrew
AU - Tridico, Silvana
AU - Bunce, Michael
AU - Lorenzen, Eline
AU - Binladen, Jonas Khalid Mohamed Awad
AU - Guo, Xiaosen
AU - Zhao, Jing
AU - Zhang, Xiuqing
AU - Zhang, Hao
AU - Li, Zhuo
AU - Chen, Minfeng
AU - Orlando, Ludovic Antoine Alexandre
AU - Kristiansen, Karsten
AU - Bak, Mads
AU - Tommerup, Niels
AU - Bendixen, Christian
AU - Pierre, Tracey L
AU - Grønnow, Bjarne
AU - Meldgaard, Morten
AU - Andreasen, Claus
AU - Fedorova, Sardana A.
AU - Osipova, Ludmila P.
AU - Higham, Thomas F. G.
AU - Ramsey, Christopher Bronk
AU - Hansen, Thomas van Overeem
AU - Nielsen, Finn Cilius
AU - Crawford, Michael H.
AU - Brunak, Søren
AU - Sicheritz-Pontén, Thomas
AU - Villems, Richard
AU - Nielsen, Rasmus
AU - Krogh, Anders
AU - Wang, Jun
AU - Willerslev, Eske
PY - 2010/2/11
Y1 - 2010/2/11
N2 - 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.
AB - 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.
KW - Cryopreservation
KW - Emigration and Immigration
KW - Extinction, Biological
KW - Genetics, Population
KW - Genome, Human
KW - Genomics
KW - Genotype
KW - Greenland
KW - Hair
KW - History, Ancient
KW - Humans
KW - Inuits
KW - Male
KW - Phenotype
KW - Phylogeny
KW - Polymorphism, Single Nucleotide
KW - Sequence Analysis, DNA
KW - Siberia
U2 - 10.1038/nature08835
DO - 10.1038/nature08835
M3 - Journal article
C2 - 20148029
VL - 463
SP - 757
EP - 762
JO - Nature
JF - Nature
SN - 0028-0836
IS - 7282
ER -