Ancient Human Genome Sequence of an Extinct Palaeo-Eskimo

Morten Rasmussen, Yingrui Li, Stinus Lindgreen, Jacob Skov Pedersen, Anders Albrechtsen, Ida Moltke, Mait Metspalu, Ene Metspalu, Toomas Kivisild, Ramneek Gupta, Marcelo Bertalan Quintanilha dos Santos, Kasper Nielsen, MTP Gilbert, Y Wang, M Raghavan, PF Campos, HM Kamp, AS Wilson, A Gledhill, S TridicoM Bunce, ED Lorenzen, J Binladen, X Guo, J Zhao, X Zhang, H Zhang, Z Li, M Chen, L Orlando, K Kristiansen, M Bak, N Tommerup, C Bendixen, TL Pierre, B Grønnow, M Meldgaard, C Andreasen, SA Fedorova, LP Osipova, TFG Higham, CB Ramsey, TV Hansen, FC Nielsen, MH Crawford, Søren Brunak, Thomas Sicheritz-Pontén, R Villems, R Nielsen, A Krogh, J Wang, E Willerslev

    Research output: Contribution to journalJournal articleResearchpeer-review


    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.
    Original languageEnglish
    Issue number7282
    Pages (from-to)757-762
    Publication statusPublished - 2010

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