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Nature ; 463(7282): 757-62, 2010 Feb 11.
Artigo em Inglês | MEDLINE | ID: mdl-20148029

RESUMO

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.


Assuntos
Criopreservação , Extinção Biológica , Genoma Humano/genética , Inuíte/genética , Emigração e Imigração/história , Genética Populacional , Genômica , Genótipo , Groenlândia , Cabelo , História Antiga , Humanos , Masculino , Fenótipo , Filogenia , Polimorfismo de Nucleotídeo Único/genética , Análise de Sequência de DNA , Sibéria/etnologia
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