title: Analysis of ancient human genomes: using next generation sequencing, 20-fold coverage of the genome of a 4,000-year-old human from Greenland has been obtained.
abstract: High-capacity sequencing technologies have dramatically reduced both the cost and time required to generate complete human genome sequences. Besides expanding our knowledge about existing diversity, the nature of these technologies makes it possible to extend knowledge in yet another dimension: time. Recently, the complete genome sequence of a 4,000-year-old human from the Saqqaq culture of Greenland was determined to 20-fold coverage. These data make it possible to investigate the population affinities of this enigmatic culture and, by identifying several phenotypic traits of this individual, provide a limited glimpse into how these people may have looked. While undoubtedly a milestone in ancient DNA research, the cost to generate an ancient genome, even from such an exceptionally preserved specimen, remains out of reach for most. Nonetheless, recently developed DNA capture methods, already applied to Neanderthal and fossil human mitochondrial DNA, may soon make large-scale genome-wide analysis of ancient human diversity a reality, providing a fresh look at human population history.
authors.affiliation: Department of Biology, The Pennsylvania State University, University Park, PA, USA.
authors.forename: Beth
authors.initials: B
authors.lastname: Shapiro
authors.forename: Michael
authors.initials: M
authors.lastname: Hofreiter
mesh_terms: D001106:Archaeology; D004272:DNA, Mitochondrial / Q000235:genetics; D005580:Fossils; D015894:Genome, Human / Q000235:genetics*; D006116:Greenland; D006801:Humans; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D004272:DNA, Mitochondrial