Ancient human genome sequence of an extinct Palaeo-Eskimo

Research output: Contribution to journalJournal articleResearchpeer-review


  • Morten Rasmussen
  • Yingrui Li
  • Stinus Lindgreen
  • Mait Metspalu
  • Ene Metspalu
  • Toomas Kivisild
  • Ramneek Gupta
  • Marcelo Bertalan
  • Kasper Nielsen
  • Yong Wang
  • Maanasa Raghavan
  • Paula Campos
  • Andrew S. Wilson
  • Andrew Gledhill
  • Silvana Tridico
  • Michael Bunce
  • Jonas Khalid Mohamed Awad Binladen
  • Xiaosen Guo
  • Jing Zhao
  • Xiuqing Zhang
  • Hao Zhang
  • Zhuo Li
  • Minfeng Chen
  • Ludovic Antoine Alexandre Orlando
  • Mads Bak
  • Christian Bendixen
  • Tracey L Pierre
  • Bjarne Grønnow
  • Claus Andreasen
  • Sardana A. Fedorova
  • Ludmila P. Osipova
  • Thomas F. G. Higham
  • Christopher Bronk Ramsey
  • Michael H. Crawford
  • Thomas Sicheritz-Pontén
  • Richard Villems
  • Jun Wang
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
Number of pages6
Publication statusPublished - 11 Feb 2010

    Research areas

  • Cryopreservation, Emigration and Immigration, Extinction, Biological, Genetics, Population, Genome, Human, Genomics, Genotype, Greenland, Hair, History, Ancient, Humans, Inuits, Male, Phenotype, Phylogeny, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Siberia

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