Ancient human genome sequence of an extinct Palaeo-Eskimo

Ancient human genome sequence of an extinct Palaeo-Eskimo


We report here the genome sequence of an ancient human. Obtained from ~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 20×, 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.


  • Rasmussen, Morten; Li, Yingrui; Lindgreen, Stinus; Pedersen, Jakob S.; Albrechtsen, Anders; Moltke, Ida; Metspalu, Mait; Metspalu, Ene; Kivisild, Toomas; Gupta, Ramneek; Bertalan, Marcelo; Nielsen, Kasper; Gilbert; Wang, Yong; Raghavan, Maanasa; Campos, P (2010). Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature, 463(7282), 757-762.

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Peoples: Native Americans | Places: Greenland | Topics: Palaeo-Eskimos | DNA Type: Autosomal DNA and Y-DNA

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