A High-Coverage Genome Sequence from an Archaic Denisovan Individual
Matthias Meyer(Max Planck Institute for Evolutionary Anthropology), Martin Kircher(Max Planck Society), Marie-Theres Gansauge(Max Planck Institute for Evolutionary Anthropology), Heng Li(Broad Institute), Fernando Racimo(Max Planck Institute for Evolutionary Anthropology), Swapan Mallick(Broad Institute), Joshua G. Schraiber(University of California, Berkeley), Flora Jay(University of California, Berkeley), Kay Prüfer(Max Planck Society), Cesare de Filippo(Max Planck Institute for Evolutionary Anthropology), Peter H. Sudmant(University of Washington), Can Alkan(Bilkent University), Qiaomei Fu(Institute of Vertebrate Paleontology and Paleoanthropology), Ron Do(Broad Institute), Nadin Rohland(Broad Institute), Arti Tandon(Broad Institute), Michael Siebauer(Max Planck Society), Richard E. Green(University of California, Santa Cruz), Katarzyna Bryc(Harvard University), Adrian W. Briggs(Harvard University), Udo Stenzel(Max Planck Society), Jesse Dabney(Max Planck Institute for Evolutionary Anthropology), Jay Shendure(University of Washington), Jacob O. Kitzman(University of Washington), Michael F. Hammer(University of Arizona), M.V. Shunkov(Institute of Archaeology and Ethnography), А. П. Деревянко(Institute of Archaeology and Ethnography), Nick Patterson(Broad Institute), Aida M. Andrés(Max Planck Society), Evan E. Eichler(Howard Hughes Medical Institute), Montgomery Slatkin(University of California, Berkeley), David Reich(Broad Institute), Janet Kelso(Max Planck Society), Svante Pääbo(Max Planck Institute for Evolutionary Anthropology)
Cited by 2,108Open Access
Abstract
We present a DNA library preparation method that has allowed us to reconstruct a high-coverage (30×) genome sequence of a Denisovan, an extinct relative of Neandertals. The quality of this genome allows a direct estimation of Denisovan heterozygosity indicating that genetic diversity in these archaic hominins was extremely low. It also allows tentative dating of the specimen on the basis of "missing evolution" in its genome, detailed measurements of Denisovan and Neandertal admixture into present-day human populations, and the generation of a near-complete catalog of genetic changes that swept to high frequency in modern humans since their divergence from Denisovans.