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- Title
Ancient human genome sequence of an extinct Palaeo-Eskimo.
- Authors
Rasmussen, Morten; Li, Yingrui; Lindgreen, Stinus; Pedersen, Jakob Skou; Albrechtsen, Anders; Moltke, Ida; Metspalu, Mait; Metspalu, Ene; Kivisild, Toomas; Gupta, Ramneek; Bertalan, Marcelo; Nielsen, Kasper; Gilbert, M Thomas P; Wang, Yong; Raghavan, Maanasa; Campos, Paula F; Kamp, Hanne Munkholm; Wilson, Andrew S; Gledhill, Andrew; Tridico, Silvana; Bunce, Michael; Lorenzen, Eline D; Binladen, Jonas; Guo, Xiaosen; Zhao, Jing; Zhang, Xiuqing; Zhang, Hao; Li, Zhuo; Chen, Minfeng; Orlando, Ludovic; Kristiansen, Karsten; Bak, Mads; Tommerup, Niels; Bendixen, Christian; Pierre, Tracey L; Grønnow, Bjarne; Meldgaard, Morten; Andreasen, Claus; Fedorova, Sardana A; Osipova, Ludmila P; Higham, Thomas F G; Ramsey, Christopher Bronk; Hansen, Thomas V O; Nielsen, Finn C; Crawford, Michael H; Brunak, Søren; Sicheritz-Pontén, Thomas; Villems, Richard; Nielsen, Rasmus; Krogh, Anders; Wang, Jun; Willerslev, Eske
- Abstract
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.
- Publication
Nature, 2010, Vol 463, Issue 7282, p757
- ISSN
1476-4687
- Publication type
Journal Article
- DOI
10.1038/nature08835