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

^*Corresponding author for this work

Institute of Human Genetics

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
Journal	Science
Volume	338
Issue number	6104
Pages (from-to)	222-226
Number of pages	5
ISSN	0036-8075
DOIs	https://doi.org/10.1126/science.1224344
Publication status	Published - 12.10.2012

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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

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title = "A high-coverage genome sequence from an archaic Denisovan individual",

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.",

author = "Matthias Meyer and Martin Kircher and Gansauge, {Marie Theres} and Heng Li and Fernando Racimo and Swapan Mallick and Schraiber, {Joshua G.} and Flora Jay and Kay Pr{\"u}fer and {De Filippo}, Cesare and Sudmant, {Peter H.} and Can Alkan and Qiaomei Fu and Ron Do and Nadin Rohland and Arti Tandon and Michael Siebauer and Green, {Richard E.} and Katarzyna Bryc and Briggs, {Adrian W.} and Udo Stenzel and Jesse Dabney and Jay Shendure and Jacob Kitzman and Hammer, {Michael F.} and Shunkov, {Michael V.} and Derevianko, {Anatoli P.} and Nick Patterson and Andr{\'e}s, {Aida M.} and Eichler, {Evan E.} and Montgomery Slatkin and David Reich and Janet Kelso and Svante P{\"a}{\"a}bo",

year = "2012",

month = oct,

day = "12",

doi = "10.1126/science.1224344",

language = "English",

volume = "338",

pages = "222--226",

journal = "Science",

issn = "0036-8075",

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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

TY - JOUR

T1 - A high-coverage genome sequence from an archaic Denisovan individual

AU - Meyer, Matthias

AU - Kircher, Martin

AU - Gansauge, Marie Theres

AU - Li, Heng

AU - Racimo, Fernando

AU - Mallick, Swapan

AU - Schraiber, Joshua G.

AU - Jay, Flora

AU - Prüfer, Kay

AU - De Filippo, Cesare

AU - Sudmant, Peter H.

AU - Alkan, Can

AU - Fu, Qiaomei

AU - Do, Ron

AU - Rohland, Nadin

AU - Tandon, Arti

AU - Siebauer, Michael

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

PY - 2012/10/12

Y1 - 2012/10/12

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84867331947&partnerID=8YFLogxK

U2 - 10.1126/science.1224344

DO - 10.1126/science.1224344

M3 - Journal articles

AN - SCOPUS:84867331947

SN - 0036-8075

VL - 338

SP - 222

EP - 226

JO - Science

JF - Science

IS - 6104

ER -

A high-coverage genome sequence from an archaic Denisovan individual

Abstract

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