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A high-coverage Neandertal genome from Vindija Cave in Croatia

Pruefer, K; de Filippo, C; Grote, S; Mafessoni, F; Korlevic, P; Hajdinjak, M; Vernot, B; ... Paabo, S; + view all (2017) A high-coverage Neandertal genome from Vindija Cave in Croatia. Science , 358 (6363) pp. 655-658. 10.1126/science.aao1887. Green open access

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Abstract

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 ~50,000 years ago from Vindija Cave, Croatia, to ~30-fold genomic coverage. She carried 1.6 differences per 10,000 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 to 20% more Neandertal DNA to be identified in present-day humans, including variants involved in low-density lipoprotein cholesterol concentrations, schizophrenia, and other diseases.

Type: Article
Title: A high-coverage Neandertal genome from Vindija Cave in Croatia
Open access status: An open access version is available from UCL Discovery
DOI: 10.1126/science.aao1887
Publisher version: https://doi.org/10.1126/science.aao1887
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, MODERN HUMANS, ADMIXTURE, SEQUENCE, ANCIENT, DNA, INTROGRESSION, POPULATIONS, ANCESTRY
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Genetics, Evolution and Environment
URI: https://discovery.ucl.ac.uk/id/eprint/10048104
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