A high-coverage genome sequence from an archaic Denisovan individual

Matthias Meyer; Martin Kircher; Marie Theres Gansauge; Heng Li; Fernando Racimo; Swapan Mallick; Joshua G. Schraiber; Flora Jay; Kay Prüfer; Cesare De Filippo; Peter H. Sudmant; Can Alkan; Qiaomei Fu; Ron Do; Nadin Rohland; Arti Tandon; Michael Siebauer; Richard E. Green; Katarzyna Bryc; Adrian W. Briggs; Udo Stenzel; Jesse Dabney; Jay Shendure; Jacob Kitzman; Michael F. Hammer; Michael V. Shunkov; Anatoli P. Derevianko; Nick Patterson; Aida M. Andrés; Evan E. Eichler; Montgomery Slatkin; David Reich; Janet Kelso; Svante Pääbo

doi:10.1126/science.1224344

A high-coverage genome sequence from an archaic Denisovan individual

Matthias Meyer, Martin Kircher, Marie Theres Gansauge, Heng Li, Fernando Racimo, Swapan Mallick, Joshua G. Schraiber, Flora Jay, Kay Prüfer, Cesare De Filippo, Peter H. Sudmant, Can Alkan, Qiaomei Fu, Ron Do, Nadin Rohland, Arti Tandon, Michael Siebauer, Richard E. Green, Katarzyna Bryc, Adrian W. BriggsUdo Stenzel, Jesse Dabney, Jay Shendure, Jacob Kitzman, Michael F. Hammer, Michael V. Shunkov, Anatoli P. Derevianko, Nick Patterson, Aida M. Andrés, Evan E. Eichler, Montgomery Slatkin, David Reich, Janet Kelso, Svante Pääbo

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Abstract

We present a DNA library preparation method that has allowed us to reconstruct a high-coverage (30x) 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.

Original language	English (US)
Pages (from-to)	222-226
Number of pages	5
Journal	Science
Volume	338
Issue number	6104
DOIs	https://doi.org/10.1126/science.1224344
State	Published - Oct 12 2012
Externally published	Yes

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Meyer, M., Kircher, M., Gansauge, M. T., Li, H., Racimo, F., Mallick, S., Schraiber, J. G., Jay, F., Prüfer, K., De Filippo, C., Sudmant, P. H., Alkan, C., Fu, Q., Do, R., Rohland, N., Tandon, A., Siebauer, M., Green, R. E., Bryc, K., ... Pääbo, S. (2012). A high-coverage genome sequence from an archaic Denisovan individual. Science, 338(6104), 222-226. https://doi.org/10.1126/science.1224344

Meyer, M, Kircher, M, Gansauge, MT, Li, H, Racimo, F, Mallick, S, Schraiber, JG, Jay, F, Prüfer, K, De Filippo, C, Sudmant, PH, Alkan, C, Fu, Q, Do, R, Rohland, N, Tandon, A, Siebauer, M, Green, RE, Bryc, K, Briggs, AW, Stenzel, U, Dabney, J, Shendure, J, Kitzman, J, Hammer, MF, Shunkov, MV, Derevianko, AP, Patterson, N, Andrés, AM, Eichler, EE, Slatkin, M, Reich, D, Kelso, J & Pääbo, S 2012, 'A high-coverage genome sequence from an archaic Denisovan individual', Science, vol. 338, no. 6104, pp. 222-226. https://doi.org/10.1126/science.1224344

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abstract = "We present a DNA library preparation method that has allowed us to reconstruct a high-coverage (30x) 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.",

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AU - Mallick, Swapan

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AU - De Filippo, Cesare

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AU - Alkan, Can

AU - Fu, Qiaomei

AU - Do, Ron

AU - Rohland, Nadin

AU - Tandon, Arti

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AU - Green, Richard E.

AU - Bryc, Katarzyna

AU - Briggs, Adrian W.

AU - Stenzel, Udo

AU - Dabney, Jesse

AU - Shendure, Jay

AU - Kitzman, Jacob

AU - Hammer, Michael F.

AU - Shunkov, Michael V.

AU - Derevianko, Anatoli P.

AU - Patterson, Nick

AU - Andrés, Aida M.

AU - Eichler, Evan E.

AU - Slatkin, Montgomery

AU - Reich, David

AU - Kelso, Janet

AU - Pääbo, Svante

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A high-coverage genome sequence from an archaic Denisovan individual

Abstract

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