Ancient human genome sequence of an extinct Palaeo-Eskimo. Rasmussen, M., Li, Y., Lindgreen, S., Pedersen, J., S., Albrechtsen, A., Moltke, I., Metspalu, M., Metspalu, E., Kivisild, T., Gupta, R., Bertalan, M., Nielsen, K., Gilbert, M., T., Wang, Y., Raghavan, M., Campos, P., F., Kamp, H., M., Wilson, A., S., Gledhill, A., Tridico, S., Bunce, M., Lorenzen, E., D., 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., L., Gronnow, B., Meldgaard, M., Andreasen, C., Fedorova, S., A., Osipova, L., P., Higham, T., F., Ramsey, C., B., Hansen, T., V., Nielsen, F., C., Crawford, M., H., Brunak, S., Sicheritz-Ponten, T., Villems, R., Nielsen, R., Krogh, A., Wang, J., & Willerslev, E. Nature, 463(7282):757-762, Nature Publishing Group, 2, 2010.
Ancient human genome sequence of an extinct Palaeo-Eskimo [pdf]Paper  Ancient human genome sequence of an extinct Palaeo-Eskimo [link]Website  abstract   bibtex   
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.

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