Ancient human genome sequence of an extinct Palaeo-Eskimo

• Published in: Nature
• Main Authors: Rasmussen, M., Li, Y., Lindgreen, S., Pedersen, J., Albrechtsen, A., Metspalu, M., Metspalu, E., Kivisild, T., Gupta, R., Bertalan, M., Nielsen, K., Gilbert, Thomas, Wang, Y., Raghavan, M., Campos, P., Kamp, H., Wilson, A., Gledhill, A., Tridico, S., Bunce, Michael, Lorenzen, E., Binladen, J., Guo, X., Zhao, J., Zhang, X., Zhang, H., Li, Z., Chen, M., Orlando, L., Kristiansen, K., Bak, M., Tommerup, N., Bendixen, C., Pierre, T., Grønnow, B., Meldgaard, M., Andreasen, C., Fedorova, S., Osipova, L., Higham, T., Ramsey, C., Hansen, T., Nielsen, F., Crawford, M., Brunak, S., Sicheritz-Ponten, T., Villems, R., Nielsen, R., Krogh, A., Wang, Jun, Willerslev, E., Moltke, I.
• Format: Article in Journal/Newspaper
• Language: unknown
• Published: Nature Publishing Group 2010
• Subjects: Greenland; eskimo*; inuit; permafrost; Siberia
• Online Access: https://hdl.handle.net/20.500.11937/31802; https://doi.org/10.1038/nature08835

We report here the genome sequence of an ancient human. Obtained from,4,000-year-old permafrost-preserved hair, thegenome represents a male individual from the first known culture to settle in Greenland. Sequenced to an average depth of203, we recover 79% of the diploid genome, an amount close to the practical limit of current sequencing technologies. Weidentify 353,151 high-confidence single-nucleotide polymorphisms (SNPs), of which 6.8% have not been reportedpreviously. We estimate raw read contamination to be no higher than 0.8%. We use functional SNP assessment to assignpossible phenotypic characteristics of the individual that belonged to a culture whose location has yielded only trace humanremains.We compare the high-confidence SNPs to those of contemporary populations to find the populations most closelyrelated 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.