A high-coverage Neandertal genome from Vindija Cave in Croatia

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DOI

  • Kay Prüfer
  • ,
  • Cesare de Filippo
  • ,
  • Steffi Grote
  • ,
  • Fabrizio Mafessoni
  • ,
  • Petra Korlević
  • ,
  • Mateja Hajdinjak
  • ,
  • Benjamin Vernot
  • ,
  • Laurits Skov
  • Pinghsun Hsieh
  • ,
  • Stéphane Peyrégne
  • ,
  • David Reher
  • ,
  • Charlotte Hopfe
  • ,
  • Sarah Nagel
  • ,
  • Tomislav Maricic
  • ,
  • Qiaomei Fu
  • ,
  • Christoph Theunert
  • ,
  • Christoph Theunert
  • ,
  • Rebekah Rogers
  • ,
  • Pontus Skoglund
  • ,
  • Manjusha Chintalapati
  • ,
  • Michael Dannemann
  • ,
  • Bradley J. Nelson
  • ,
  • Felix M. Key
  • ,
  • Pavao Rudan
  • ,
  • Željko Kućan
  • ,
  • Ivan Gušić
  • ,
  • Liubov V. Golovanova
  • ,
  • Vladimir B. Doronichev
  • ,
  • Nick Patterson
  • ,
  • David Reich
  • ,
  • David Reich
  • ,
  • David Reich
  • ,
  • Evan E. Eichler
  • ,
  • Evan E. Eichler
  • ,
  • Montgomery Slatkin
  • ,
  • Mikkel H. Schierup
  • Aida Andrés
  • ,
  • Janet Kelso
  • ,
  • Matthias Meyer
  • ,
  • Svante Pääbo
© 2017 American Association for the Advancement of Science. To date the only Neandertal genome that has been sequenced to high quality is from an individual found in Southern Siberia. We sequenced the genome of a female Neandertal from ~50 thousand years ago from Vindija Cave, Croatia to ~30-fold genomic coverage. She carried 1.6 differences per ten thousand base pairs between the two copies of her genome, fewer than present-day humans, suggesting that Neandertal populations were of small size. Our analyses indicate that she was more closely related to the Neandertals that mixed with the ancestors of present-day humans living outside of sub-Saharan Africa than the previously sequenced Neandertal from Siberia, allowing 10-20% more Neandertal DNA to be identified in present-day humans, including variants involved in LDL cholesterol levels, schizophrenia and other diseases.
Original languageEnglish
JournalScience
Volume358
Issue6363
Pages (from-to)655-658
Number of pages4
ISSN0036-8075
DOIs
Publication statusPublished - 3 Nov 2017

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