articleNatureFeb 1, 2010HYBRID OA

Ancient human genome sequence of an extinct Palaeo-Eskimo

MRMorten RasmussenYLYingrui LiSLStinus LindgreenJSJakob Skou PedersenAAAnders Albrechtsen

University of Copenhagen · Natural History Museum Aarhus · +22 more institutions

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Abstract

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…

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Topics & keywords

Topics
Keywords
  • Ancient DNA
  • Human genome
  • Genome
  • Single-nucleotide polymorphism
  • Biology
  • Evolutionary biology
  • SNP
  • Sequence (biology)
UN Sustainable Development Goals
  • Life below water
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