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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.
Recent advances in DNA sequencing technologies have initiated an era of personal genomics. Eight human genome sequences have been reported so far, for individuals with ancestry in three distinct geographical regions: a Yoruba African1,2, four Europeans2-5, a Han Chinese6, and two Koreans7,8, and soon this data set will expand significantly as the '1000 genomes' project is completed.
From an evolutionary perspective, however, modern genomics is restricted by not being able to uncover past human genetic diversity and composition directly. To access such data, ancient genomic sequencing is needed. Presently no genome from an ancient human has been published, the closest being two data sets representing a few megabases(Mb) ofDNAfroma singleNeanderthal9,10.Contamination and DNA degradation have also compromised the possibility of obtaining high sequence depth11, and no ancient nuclear genome has been sequenced deeper than about 0.7312-a level insufficient for genotyping and exclusion of errors owing to sequencing or postmortem DNA damage13.
In 2008 we used permafrost-preserved hair from one of the earliest individuals that settled in the New World Arctic (northern Alaska, Canada and Greenland) belonging to the SaqqaqCulture (a component of the Arctic Small Tool tradition; approximately 4,750-2,500 14C years before present (yr BP))14,15 to generate the first complete ancient human mitochondrial DNA (mtDNA) genome16. A total of 80% of the recovered DNA was human, with no evidence of...