Ancient human genome sequence of an extinct Palaeo-Eskimo.

• Published in: Nature
• Main 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, Maa
• Language: English
• Published: 2010
• Subjects: Culture; Genome; Human Genome; Native Americans; Snps; Genome Mapping; Genetics and Human Ancestry; Greenland; eskimo*; inuit; permafrost; Siberia
• Online Access: http://hdl.handle.net/10822/515319; http://www.nature.com/nature/journal/v463/n7282/; https://doi.org/10.1038/nature08835

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. http://dx.doi.org/10.1038/nature08835