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Genomes (Kay Prüfer)

(Former group hosted by the Department of Evolutionary Genetics)

The group was a member of the Genetics Department from 2013-2018.
Kay Prüfer is moving to the Max Planck Institute for the Science of Human History.

The focus of the Genomes group is on learning more about the recent evolutionary history of humans through evolutionary analysis of genome data. For this purpose we use both available software and develop new computational methods. Our analyses are based on comparison of the human genome to the genomes of our closest living relatives, chimpanzee and bonobo, and our closest extinct relatives, Neandertals and Denisovans. Currently the group's efforts are focused on the analysis of a high-coverage Neandertal genome. In addition, the group is dedicated to supporting other projects requiring genome-wide analyses.

Former group staff

  • Manjusha Chintalapati
  • Stéphane Peyrégne
  • Fabrizio Mafessoni
  • Kay Prüfer

Publications

2023

Peyrégne, S., Slon, V., & Kelso, J. (2023). More than a decade of genetic research on the Denisovans. Nature Reviews Genetics, 25(2), 83-103.
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Tkaczynski, P. J., Mafessoni, F., Girard-Buttoz, C., Samuni, L., Ackermann, C. Y., Fedurek, P., Gomes, C., Hobaiter, C., Löhrich, T., Manin, V., Preis, A., Valé, P. D., Wessling, E. G., Wittiger, L., Zommers, Z., Zuberbuehler, K., Vigilant, L., Deschner, T., Wittig, R. M., & Crockford, C. (2023). Shared community effects and the non-genetic maternal environment shape cortisol levels in wild chimpanzees. Communications Biology, 6(1): 565.
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2022

Peyrégne, S., Kelso, J., Peter, B. M., & Pääbo, S. (2022). The evolutionary history of human spindle genes includes back-and-forth gene flow with Neandertals. eLife, 11: e75464.
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Skov, L., Peyrégne, S., Popli, D. R., Iasi, L. N., Devièse, T., Slon, V., Zavala, E. I., Hajdinjak, M., Sümer, A., Grote, S., Bossoms Mesa, A., López Herráez, D., Nickel, B., Nagel, S., Richter, J., Essel, E., Gansauge, M.-T., Schmidt, A., Korlevic, P., Comeskey, D., Derevianko, A. P., Kharevich, A., Markin, S. V., Talamo, S., Douka, K., Krajcarz, M. T., Roberts, R. G., Higham, T., Viola, B., Krivoshapkin, A. I., Kolobova, K. A., Kelso, J., Meyer, M., Pääbo, S., & Peter, B. M. (2022). Genetic insights into the social organization of Neanderthals. Nature, 610, 519-525.
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2021

Reinscheid, R. K., Mafessoni, F., Lüttjohann, A., Jüngling, K., Pape, H.-C., & Schulz, S. (2021). Neandertal introgression and accumulation of hypomorphic mutations in the neuropeptide S (NPS) system promote attenuated functionality. Peptides, 138: 170506.
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Vernot, B., Zavala, E. I., Gómez-Olivencia, A., Jacobs, Z., Slon, V., Mafessoni, F., Romagné, F., Pearson, A., Petr, M., Sala, N., Pablos, A., Aranburu, A., de Castro, J. M. B., Carbonell, E., Li, B., Krajcarz, M. T., Krivoshapkin, A. I., Kolobova, K. A., Kozlikin, M. B., Shunkov, M. V., Derevianko, A. P., Viola, B., Grote, S., Essel, E., López Herráez, D., Nagel, S., Nickel, B., Richter, J., Schmidt, A., Peter, B., Kelso, J., Roberts, R. G., Arsuaga, J.-L., & Meyer, M. (2021). Unearthing Neanderthal population history using nuclear and mitochondrial DNA from cave sediments. Science, eabf1667.
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2020

Khan, N., de Manuel, M., Peyrégne, S., Do, R., Prüfer, K., Marques-Bonet, T., Varki, N., Gagneux, P., & Varki, A. (2020). Multiple Genomic Events Altering Hominin SIGLEC Biology and Innate Immunity Predated the Common Ancestor of Humans and Archaic Hominins. Genome Biology and Evolution, 12(7), 1040-1050.
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Peyrégne, S., & Peter, B. M. (2020). AuthentiCT: A model of ancient DNA damage to estimate the proportion of present-day DNA contamination. Genome Biology, 21: 246.
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2019

Mafessoni, F. (2019). Encounters with archaic hominins. Nature Ecology and Evolution, 3, 14-15.
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Peyrégne, S. (2019). Investigating deep human evolutionary and population history using archaic human genomes. PhD Thesis, Universität, Leipzig.
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Peyrégne, S., Slon, V., Mafessoni, F., de Filippo, C., Hajdinjak, M., Nagel, S., Nickel, B., Essel, E., Le Cabec, A., Wehrberger, K., Conard, N. J., Kind, C. J., Posth, C., Krause, J., Abrams, G., Bonjean, D., Di Modica, K., Toussaint, M., Kelso, J., Meyer, M., Pääbo, S., & Prüfer, K. (2019). Nuclear DNA from two early Neandertals reveals 80,000 years of genetic continuity in Europe. Science Advances, 5(6): eaaw5873.
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2018

Chintalapati, M. (2018). Indels and large scale variation in archaic hominins compared to present day humans. PhD Thesis, Universität, Leipzig.
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de Filippo, C., Meyer, M., & Prüfer, K. (2018). Quantifying and reducing spurious alignments for the analysis of ultra-short ancient DNA sequences. BMC Biology, 16: 121.
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Hajdinjak, M., Fu, Q., Hübner, A., Petr, M., Mafessoni, F., Grote, S., Skoglund, P., Narasimham, V., Rougier, H., Crevecoeur, I., Semal, P., Soressi, M., Talamo, S., Hublin, J.-J., Gušic, I., Kucan, Ž., Rudan, P., Golovanova, L. V., Doronichev, V. B., Posth, C., Krause, J., Korlevic, P., Nagel, S., Nickel, B., Slatkin, M., Patterson, N., Reich, D., Prüfer, K., Meyer, M., Pääbo, S., & Kelso, J. (2018). Reconstructing the genetic history of late Neanderthals. Nature, 555(7698), 652-656.
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Kolora, S. R. R., Weigert, A., Saffari, A., Kehr, S., Walter Costa, M. B., Spröer, C., Indrischek, H., Chintalapati, M., Lohse, K., Doose, G., Overmann, J., Bunk, B., Bleidorn, C., Grimm-Seyfarth, A., Henle, K., Nowick, K., Faria, R., Stadler, P. F., & Schlegel, M. (2018). Divergent evolution in the genomes of closely related lacertids, Lacerta viridis and L. bilineata, and implications for speciation. GigaScience, 8(2): giy160.
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Mafessoni, F., Prasad, R. B., Groop, L., Hansson, O., & Prüfer, K. (2018). Turning Vice into Virtue: Using Batch-Effects to Detect Errors in Large Genomic Data Sets. Genome Biology and Evolution, 10(10), 2697-2708.
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Prüfer, K. (2018). snpAD: An ancient DNA genotype caller. Bioinformatics, 34(24), 4165-4171.
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Slon, V., Mafessoni, F., Vernot, B., de Filippo, C., Grote, S., Viola, T. B., Hajdinjak, M., Peyrégne, S., Nagel, S., Brown, S., Douka, K., Higham, T., Kozlikin, M. B., Shunkov, M. V., Derevianko, A. P., Kelso, J., Meyer, M., Prüfer, K., & Pääbo, S. (2018). The genome of the offspring of a Neanderthal mother and a Denisovan father. Nature, 561(7721), 113-116.
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2017

Chintalapati, M., Dannemann, M., & Prüfer, K. (2017). Using the Neandertal genome to study the evolution of small insertions and deletions in modern humans. BMC Evolutionary Biology, 17: 179.
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Dannemann, M., Prüfer, K., & Kelso, J. (2017). Functional implications of Neandertal introgression in modern humans. Genome Biology, 18: 61.
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Mafessoni, F., & Prüfer, K. (2017). Better support for a small effective population size of Neandertals and a long shared history of Neandertals and Denisovans. Proceedings of the National Academy of Sciences, 114(48), E10256-E10257.
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Peyrégne, S., Dannemann, M., & Prüfer, K. (2017). Detecting ancient positive selection in humans using extended lineage sorting. Genome Research, 27(9), 1563-1572.
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Prüfer, K., Filippo, C. d., Grote, S., Mafessoni, F., Korlevic, P., Hajdinjak, M., Vernot, B., Skov, L., Hsieh, P., Peyrégne, S., Reher, D., Hopfe, C., Nagel, S., Maricic, T., Fu, Q., Theunert, C., Rogers, R., Skoglund, P., Chintalapati, M., Dannemann, M., Nelson, B. J., Key, F. M., Rudan, P., Kucan, Ž., Gušic, I., Golovanova, L. V., Doronichev, V. B., Patterson, N., Reich, D., Eichler, E. E., Slatkin, M., Schierup, M. H., Andrés, A. M., Kelso, J., Meyer, M., & Pääbo, S. (2017). A high-coverage Neandertal genome from Vindija Cave in Croatia. Science, 358(6363), 655-658.
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Slon, V., Hopfe, C., Weiß, C. L., Mafessoni, F., de la Rasilla, M., Lalueza-Fox, C., Rosas, A., Soressi, M., Knul, M. V., Miller, R., Stewart, J. R., Derevianko, A. P., Jacobs, Z., Li, B., Roberts, R. G., Shunkov, M. V., de Lumley, H., Perrenoud, C., Gušic, I., Kucan, Ž., Rudan, P., Ayinuer-Petri, A., Essel, E., Nagel, S., Nickel, B., Schmidt, A., Prüfer, K., Kelso, J., Burbano, H. A., Pääbo, S., & Meyer, M. (2017). Neandertal and Denisovan DNA from Pleistocene sediments. Science, 356(6338), 605-608.
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Slon, V., Viola, B., Renaud, G., Gansauge, M.-T., Benazzi, S., Sawyer, S., Hublin, J.-J., Shunkov, M. V., Derevianko, A. P., Kelso, J., Prüfer, K., Meyer, M., & Pääbo, S. (2017). A fourth Denisovan individual. Science Advances, 3(7): e1700186.
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2016

Cagan, A., Theunert, C., Laayouni, H., Santpere, G., Pybus, M., Casals, F., Prüfer, K., Navarro, A., Marques-Bonet, T., Bertranpetit, J., & Andrés, A. M. (2016). Natural selection in the great apes. Molecular Biology and Evolution, 33(12), 3268-3283.
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Grote, S., Prüfer, K., Kelso, J., & Dannemann, M. (2016). ABAEnrichment: An R package to test for gene set expression enrichment in the adult and developing human brain. Bioinformatics, 32(20), 3201-3203.
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Meyer, M., Arsuaga, J.-L., de Filippo, C., Nagel, S., Aximu-Petri, A., Nickel, B., Martínez, I., Gracia, A., Bermúdez de Castro, J. M., Carbonell, E., Viola, B., Kelso, J., Prüfer, K., & Pääbo, S. (2016). Nuclear DNA sequences from the Middle Pleistocene Sima de los Huesos hominins. Nature, 531(7595), 504-507.
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2015

Florio, M., Albert, M., Taverna, E., Namba, T., Brandl, H., Lewitus, E., Haffner, C., Sykes, A., Wong, F. K., Peters, J., Guhr, E., Klemroth, S., Prüfer, K., Kelso, J., Naumann, R., Nüsslein, I., Dahl, A., Lachmann, R., Pääbo, S., & Huttner, W. B. (2015). Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion. Science, 347(6229), 1465-1470.
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Fu, Q., Hajdinjak, M., Moldovan, O., Constantin, S., Mallick, S., Skoglund, P., Patterson, N., Rohland, N., Lazaridis, I., Nickel, B., Viola, B., Prüfer, K., Meyer, M., Kelso, J., Reich, D., & Pääbo, S. (2015). An early modern human from Romania with a recent Neanderthal ancestor. Nature, 524(7564), 216-219.
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Le Duc, D., Renaud, G., Krishnan, A., Almén, M. S., Huynen, L., Prohaska, S. J., Ongyerth, M., Bitarello, B. D., Schiöth, H. B., Hofreiter, M., Stadler, P. F., Prüfer, K., Lambert, D., Kelso, J., & Schöneberg, T. (2015). Kiwi genome provides insights into evolution of a nocturnal lifestyle. Genome Biology, 16: 147.
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Prüfer, K., & Meyer, M. (2015). Comment on “Late Pleistocene human skeleton and mtDNA link Paleoamericans and modern Native Americans”. Science, 347(6224), 835-835.
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Ronke, C., Dannemann, M., Halbwax, M., Fischer, A., Helmschrodt, C., Brügel, M., André, C., Atencia, R., Mugisha, L., Scholz, M., Ceglarek, U., Thiery, J., Pääbo, S., Prüfer, K., & Kelso, J. (2015). Lineage-specific changes in biomarkers in great apes and humans. PLoS One, 10(8): e0134548.
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Sawyer, S., Renaud, G., Viola, B., Hublin, J.-J., Gansauge, M.-T., Shunkov, M. V., Derevianko, A. P., Prüfer, K., Kelso, J., & Pääbo, S. (2015). Nuclear and mitochondrial DNA sequences from two Denisovan individuals. Proceedings of the National Academy of Sciences of the United States of America, 112(51), 15696-15700.
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Weiß, C. L., Dannemann, M., Prüfer, K., & Burbano, H. A. (2015). Contesting the presence of wheat in the British Isles 8,000 years ago by assessing ancient DNA authenticity from low-coverage data. eLife, 4: e10005.
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2014

Fu, Q., Li, H., Moorjani, P., Jay, F., Slepchenko, S. M., Bondarev, A. A., Johnson, P. L. F., Ayinuer-Petri, A., Prüfer, K., de Filippo, C., Meyer, M., Zwyns, N., Salazar García, D. C., Kuzmin, Y. V., Keates, S. G., Kosintsev, P. A., Razhev, D. I., Richards, M. P., Peristov, N. V., Lachmann, M., Douka, K., Higham, T. F. G., Slatkin, M., Hublin, J.-J., Reich, D., Kelso, J., Viola, B., & Pääbo, S. (2014). Genome sequence of a 45,000-year-old modern human from western Siberia. Nature, 514(7523), 445-449.
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Gokhman, D., Lavi, E., Prüfer, K., Fraga, M. F., Riancho, J. A., Kelso, J., Pääbo, S., Meshorer, E., & Carmel, L. (2014). Reconstructing the DNA methylation maps of the Neandertal and the Denisovan. Science, 344(6183), 523-527.
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Hajdinjak, M., Korlević, P., Gansauge, M.-T., Dabney, J., Slon, V., Glocke, I., Sawyer, S., Nickel, B., Nagel, S., Gerber, T., Hopfe, C., Stenzel, U., Renaud, G., Andrés, A. M., Castellano, S., Kelso, J., Prüfer, K., Meyer, M., & Pääbo, S. (2014). Neandertal genetic diversity. Poster presented at XVII World UISPP Congress, Burgos, Spain.
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Kelso, J., & Prüfer, K. (2014). Ancient humans and the origin of modern humans. Current Opinion in Genetics & Development, 29, 133-138.
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Khrameeva, E. E., Bozek, K., He, L., Yan, Z., Jiang, X., Wei, Y., Tang, K., Gelfand, M. S., Prüfer, K., Kelso, J., Pääbo, S., Giavalisco, P., Lachmann, M., & Khaitovich, P. (2014). Neanderthal ancestry drives evolution of lipid catabolism in contemporary Europeans. Nature Communications, 5: 3584.
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Lazaridis, I., Patterson, N., Mittnik, A., Renaud, G., Mallick, S., Kirsanow, K., Sudmant, P. H., Schraiber, J. G., Castellano, S., Lipson, M., Berger, B., Economou, C., Bollongino, R., Fu, Q., Bos, K. I., Nordenfelt, S., Li, H., de Filippo, C., Prüfer, K., Sawyer, S., Posth, C., Haak, W., Hallgren, F., Fornander, E., Rohland, N., Delsate, D., Francken, M., Guinet, J.-M., Wahl, J., Ayodo, G., Babiker, H. A., Bailliet, G., Balanovska, E., Balanovsky, O., Barrantes, R., Bedoya, G., Ben-Ami, H., Bene, J., Berrada, F., Bravi, C. M., Brisighelli, F., Busby, G. B. J., Cali, F., Churnosov, M., Cole, D. E. C., Corach, D., Damba, L., van Driem, G., Dryomov, S., Dugoujon, J.-M., Fedorova, S. A., Romero, I. G., Gubina, M., Hammer, M., Henn, B. M., Hervig, T., Hodoglugil, U., Jha, A. R., Karachanak-Yankova, S., Khusainova, R., Khusnutdinova, E., Kittles, R., Kivisild, T., Klitz, W., Kucinskas, V., Kushniarevich, A., Laredj, L., Litvinov, S., Loukidis, T., Mahley, R. W., Melegh, B., Metspalu, E., Molina, J., Mountain, J., Näkkäläjärvi, K., Nesheva, D., Nyambo, T., Osipova, L., Parik, J., Platonov, F., Posukh, O., Romano, V., Rothhammer, F., Rudan, I., Ruizbakiev, R., Sahakyan, H., Sajantila, A., Salas, A., Starikovskaya, E. B., Tarekegn, A., Toncheva, D., Turdikulova, S., Uktveryte, I., Utevska, O., Vasquez, R., Villena, M., Voevoda, M., Winkler, C. A., Yepiskoposyan, L., Zalloua, P., Zemunik, T., Cooper, A., Capelli, C., Thomas, M. G., Ruiz-Linares, A., Tishkoff, S. A., Singh, L., Thangaraj, K., Villems, R., Comas, D., Sukernik, R., Metspalu, M., Meyer, M., Eichler, E. E., Burger, J., Slatkin, M., Pääbo, S., Kelso, J., Reich, D., & Krause, J. (2014). Ancient human genomes suggest three ancestral populations for present-day Europeans. Nature, 513(7518), 409-413.
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Prüfer, K., Racimo, F., Patterson, N., Jay, F., Sankararaman, S., Sawyer, S., Heinze, A., Renaud, G., Sudmant, P. H., de Filippo, C., Li, H., Mallick, S., Dannemann, M., Fu, Q., Kircher, M., Kuhlwilm, M., Lachmann, M., Meyer, M., Ongyerth, M., Siebauer, M. F., Theunert, C., Tandon, A., Moorjani, P., Pickrell, J., Mullikin, J. C., Vohr, S. H., Green, R. E., Hellmann, I., Johnson, P. L. F., Blanche, H., Cann, H., Kitzman, J. O., Shendure, J., Eichler, E. E., Lein, E. S., Bakken, T. E., Golovanova, L. V., Doronichev, V. B., Shunkov, M. V., Derevianko, A. P., Viola, B., Slatkin, M., Reich, D., Kelso, J., & Pääbo, S. (2014). The complete genome sequence of a Neanderthal from the Altai Mountains. Nature, 505(7481), 43-49.
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Sankararaman, S., Mallick, S., Dannemann, M., Prüfer, K., Kelso, J., Pääbo, S., Patterson, N., & Reich, D. (2014). The genomic landscape of Neanderthal ancestry in present-day humans. Nature, 507(7492), 354-357.
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The SIGMA Type 2 Diabetes Consortium, including authors, Prüfer, K., Sawyer, S., Stenzel, U., Kelso, J., Pääbo, S., & and others (2014). Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico. Nature, 506, 97-101.
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2013

Prado-Martinez, J., Sudmant, P. H., Kidd, J. M., Li, H., Kelley, J. L., Lorente-Galdos, B., Veeramah, K. R., Woerner, A. E., O’Connor, T. D., Santpere, G., Cagan, A., Theunert, C., Casals, F., Laayouni, H., Munch, K., Hobolth, A., Halager, A. E., Malig, M., Hernandez-Rodriguez, J., Hernando-Herraez, I., Prüfer, K., Pybus, M., Johnstone, L., Lachmann, M., Alkan, C., Twigg, D., Petit, N., Baker, C., Hormozdiari, F., Fernandez-Callejo, M., Dabad, M., Wilson, M. L., Stevison, L., Camprubí, C., Carvalho, T., Ruiz-Herrera, A., Vives, L., Mele, M., Abello, T., Kondova, I., Bontrop, R. E., Pusey, A., Lankester, F., Kiyang, J. A., Bergl, R. A., Lonsdorf, E., Myers, S., Ventura, M., Gagneux, P., Comas, D., Siegismund, H., Blanc, J., Agueda-Calpena, L., Gut, M., Fulton, L., Tishkoff, S. A., Mullikin, J. C., Wilson, R. K., Gut, I. G., Gonder, M. K., Ryder, O. A., Hahn, B. H., Navarro, A., Akey, J. M., Bertranpetit, J., Reich, D., Mailund, T., Schierup, M. H., Hvilsom, C., Andrés, A. M., Wall, J. D., Bustamante, C. D., Hammer, M. F., Eichler, E. E., & Marques-Bonet, T. (2013). Great ape genetic diversity and population history. Nature, 499, 471-475.
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Prüfer, K., Langergraber, K. E., Pääbo, S., & Vigilant, L. (2013). Reply to Gibb and Hills: Divergence times, generation lengths and mutation rates in great apes and humans. Proceedings of the National Academy of Sciences of the United States of America, 110(8): E612.
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2012

Dannemann, M., Prüfer, K., Lizano, E., Nickel, B., Burbano, H. A., & Kelso, J. (2012). Transcription factors are targeted by differentially expressed miRNAs in primates. Genome biology and evolution, 4(4), 552-564.
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Groß, A., Hartung, M., Prüfer, K., Kelso, J., & Rahm, E. (2012). Impact of ontology evolution on functional analyses. Bioinformatics, 28(20), 2671-2677.
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Langergraber, K., Pruefer, K., Rowney, C., Boesch, C., Crockford, C., Fawcett, K., Inoue, E., Inoue-Muruyama, M., Mitani, J. C., Muller, M. N., Robbins, M. M., Schubert, G., Stoinski, T. S., Viola, B., Watts, D., Wittig, R., Wrangham, R. W., Zuberbühler, K., Pääbo, S., & Vigilant, L. (2012). Generation times in wild chimpanzees and gorillas suggest earlier divergence times in great ape and human evolution. Proceedings of the National Academy of Sciences of the United States of America, 109(39), 15716-15721.
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Mailund, T., Halager, A. E., Westergaard, M., Dutheil, J. Y., Munch, K., Andersen, L. N., Lunter, G., Pruefer, K., Scally, A., Hobolth, A., & Schierup, M. H. (2012). A new isolation with migration model along complete genomes infers very different divergence processes among closely related great ape species. PLoS Genetics, 8(12): e1003125.
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Meyer, M., Kircher, M., Gansauge, M.-T., Li, H., Racimo, F., Mallick, S., Schraiber, J. G., Jay, F., Prüfer, K., Filippo, C. d., Sudmant, P. H., Alkan, C., Fu, Q., Do, R., Rohland, N., Tandon, A., Siebauer, M., Green, R. E., Bryc, K., Briggs, A. W., Stenzel, U., Dabney, J., Shendure, J., Kitzman, J., Hammer, M. F., Shunkov, M. V., Derevianko, A. P., Patterson, N., Andrés, A. M., Eichler, E. E., Slatkin, M., Reich, D., Kelso, J., & Pääbo, S. (2012). A high-coverage genome sequence from an archaic Denisovan individual. Science, 338(6104), 222-226.
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Prüfer, K., Munch, K., Hellmann, I., Akagi, K., Miller, J. R., Walenz, B., Koren, S., Sutton, G., Kodira, C., Winer, R., Knight, J. R., Mullikin, J. C., Meader, S. J., Ponting, C. P., Lunter, G., Higashino, S., Hobolth, A., Dutheil, J., Karakoç, E., Alkan, C., Sajjadian, S., Catacchio, C. R., Ventura, M., Marques-Bonet, T., Eichler, E. E., André, C., Atencia, R., Mugisha, L., Junhold, J., Patterson, N., Siebauer, M., Good, J. M., Fischer, A., Ptak, S. E., Lachmann, M., Symer, D. E., Mailund, T., Schierup, M. H., Andrés, A. M., Kelso, J., & Pääbo, S. (2012). The bonobo genome compared with the chimpanzee and human genomes. Nature, 486(7404), 527-531.
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2011

Fischer, A., Prüfer, K., Good, J. M., Halbwax, M., Wiebe, V., André, C., Atencia, R., Mugisha, L., Ptak, S. E., & Pääbo, S. (2011). Bonobos fall within the genomic variation of chimpanzees. PLoS One, 6(6): e21605.
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Prüfer, K. (2011). Computational approaches to ancient genome analysis. PhD Thesis, Universität, Leipzig.
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2010

Green, R. E., Krause, J., Briggs, A. W., Maricic, T., Stenzel, U., Kircher, M., Patterson, N., Li, H., Zhai, W., Fritz, M.-H.-Y., Hansen, N. F., Durand, E. Y., Malaspinas, A.-S., Jensen, J. D., Marques-Bonet, T., Alkan, C., Prüfer, K., Meyer, M., Burbano, H. A., Good, J. M., Schultz, R., Aximu-Petri, A., Butthoff, A., Höber, B., Höffner, B., Siegemund, M., Weihmann, A., Nusbaum, C., Lander, E. S., Russ, C., Novod, N., Affourtit, J., Egholm, M., Verna, C., Rudan, P., Brajkovic, D., Kucan, Z., Gusic, I., Doronichev, V. B., Golovanova, L. V., Lalueza-Fox, C., Rasilla, M. d. l., Fortea, J., Rosas, A., Schmitz, R. W., Johnson, P. L. F., Eichler, E. E., Falush, D., Birney, E., Mullikin, J. C., Slatkin, M., Nielsen, R., Kelso, J., Lachmann, M., Reich, D., & Pääbo, S. (2010). A draft sequence of the Neandertal genome. Science, 328(5979), 710-722.
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Kelso, J., Hoehndorf, R., & Prüfer, K. (2010). Ontologies in biology. In R. Poli, M. Healy, & A. Kameas (Eds.), Theory and applications of ontology: Computer applications (pp. 347-371). New York [u.a.]: Springer.
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Prüfer, K., Stenzel, U., Hofreiter, M., Pääbo, S., Kelso, J., & Green, R. E. (2010). Computational challenges in the analysis of ancient DNA. Genome Biology, 11(5): R47.
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2009

Green, R. E., Briggs, A. W., Krause, J., Prüfer, K., Burbano, H. A., Siebauer, M., Lachmann, M., & Pääbo, S. (2009). The Neandertal genome and ancient DNA authenticity. EMBO Journal, 28(17), 2494-2502.
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Hoehndorf, R., Bacher, J., Backhaus, M., Gregorio, S. E. J., Loebe, F., Pruefer, K., Uciteli, A., Visagie, J., Herre, H., & Kelso, J. (2009). BOWiki: An ontology-based wiki for annotation of data and integration of knowledge in biology. BMC Bioinformatics, 10: S5.
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2008

Green, R. E., Malaspinas, A.-S., Krause, J., Briggs, A. W., Johnson, P. L. F., Uhler, C., Meyer, M., Good, J. M., Maricic, T., Stenzel, U., Prüfer, K., Siebauer, M., Burbano, H. A., Ronan, M. T., Rothberg, J. M., Egholm, M., Rudan, P., Brajkovic, D., Kucan, Z., Gusic, I., Wikström, M., Laakkonen, L., Kelso, J., Slatkin, M., & Pääbo, S. (2008). A complete Neandertal mitochondrial genome sequence determined by high-throughput sequencing. Cell, 134(3), 416-426.
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Prüfer, K., Stenzel, U., Dannemann, M., Green, R. E., Lachmann, M., & Kelso, J. (2008). PatMaN: Rapid alignment of short sequences to large databases. Bioinformatics, 24(13), 1530-1533.
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2007

Briggs, A. W., Stenzel, U., Johnson, P. L. F., Green, R. E., Kelso, J., Prüfer, K., Meyer, M., Krause, J., Ronan, M. T., Lachmann, M., & Pääbo, S. (2007). Patterns of damage in genomic DNA sequences from a Neandertal. Proceedings of the National Academy of Sciences of the United States of America, 104(37), 14616-14621.
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Krause, J., Orlando, L., Serre, D., Viola, B., Prüfer, K., Richards, M. P., Hublin, J.-J., Hänni, C., Derevianko, A. P., & Pääbo, S. (2007). Neanderthals in central Asia and Siberia. Nature, 449(7164), 902-904.
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Meyer, M., Stenzel, U., Myles, S., Prüfer, K., & Hofreiter, M. (2007). Targeted high-throughput sequencing of tagged nucleic acid samples. Nucleic Acids Research, 35(15): e97.
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Prüfer, K., Muetzel, B., Do, H.-H., Weiss, G., Khaitovich, P., Rahm, E., Pääbo, S., Lachmann, M., & Enard, W. (2007). FUNC: A package for detecting significant associations between gene sets and ontological annotations. BMC Bioinformatics, 8: 41.
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Rhesus Macaque Genome Sequencing and Analysis Consortium, Gibbs, R. A., Rogers, J., Katze, M. G., Bumgarner, R., Weinstock, G. M., Mardis, E. R., Remington, K. A., Strausberg, R. L., Venter, J. C., Wilson, R. K., Batzer, M. A., Bustamante, C. D., Eichler, E. E., Hahn, M. W., Hardison, R. C., Makova, K. D., Miller, W., Milosavljevic, A., Palermo, R. E., Siepel, A., Sikela, J. M., Attaway, T., Bell, S., Bernard, K. E., Buhay, C. J., Chandrabose, M. N., Dao, M., Davis, C., Delehaunty, K. D., Ding, Y., Dinh, H. H., Dugan-Rocha, S., Fulton, L. A., Gabisi, R. A., Garner, T. T., Godfrey, J., Hawes, A. C., Hernandez, J., Hines, S., Holder, M., Hume, J., Jhangiani, S. N., Joshi, V., Khan, Z. M., Kirkness, E. F., Cree, A., Fowler, R. G., Lee, S., Lewis, L. R., Li, Z., Liu, Y.-s., Moore, S. M., Muzny, D., Nazareth, L. V., Ngo, D. N., Okwuonu, G. O., Pai, G., Parker, D., Paul, H. A., Pfannkoch, C., Pohl, C. S., Rogers, Y.-H., Ruiz, S. J., Sabo, A., Santibanez, J., Schneider, B. W., Smith, S. M., Sodergren, E., Svatek, A. F., Utterback, T. R., Vattathil, S., Warren, W., White, C. S., Chinwalla, A. T., Feng, Y., Halpern, A. L., Hillier, L. W., Huang, X., Minx, P., Nelson, J. O., Pepin, K. H., Qin, X., Sutton, G. G., Venter, E., Walenz, B. P., Wallis, J. W., Worley, K. C., Yang, S.-P., Jones, S. M., Marra, M. A., Rocchi, M., Schein, J. E., Baertsch, R., Clarke, L., Csürös, M., Glasscock, J., Harris, R. A., Havlak, P., Jackson, A. R., Jiang, H., Liu, Y., Messina, D. N., Shen, Y., Song, H.-X.-Z., Wylie, T., Zhang, L., Birney, E., Han, K., Konkel, M. K., Lee, J., Smit, A. F. A., Ullmer, B., Wang, H., Xing, J., Burhans, R., Cheng, Z., Karro, J. E., Ma, J., Raney, B., She, X., Cox, M. J., Demuth, J. P., Dumas, L. J., Han, S.-G., Hopkins, J., Karimpour-Fard, A., Kim, Y. H., Pollack, J. R., Vinar, T., Addo-Quaye, C., Degenhardt, J., Denby, A., Hubisz, M. J., Indap, A., Kosiol, C., Lahn, B. T., Lawson, H. A., Marklein, A., Nielsen, R., Vallender, E. J., Clark, A. G., Ferguson, B., Hernandez, R. D., Hirani, K., Kehrer-Sawatzki, H., Kolb, J., Patil, S., Pu, L.-L., Ren, Y., Smith, D. G., Wheeler, D. A., Schenck, I., Ball, E. V., Chen, R., Cooper, D. N., Giardine, B., Hsu, F., Kent, W. J., Lesk, A., Nelson, D. L., O'Brien, W. E., Prüfer, K., Stenson, P. D., Wallace, J. C., Ke, H., Liu, X.-M., Wang, P., Xiang, A. P., Yang, F., Barber, G. P., Haussler, D., Karolchik, D., Kern, A. D., Kuhn, R. M., Smith, K. E., & Zwieg, A. S. (2007). Evolutionary and biomedical insights from the rhesus macaque genome. Science, 316(5822), 222-234.
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2006

Hoehndorf, R., Prüfer, K., Backhaus, M., Herre, H., Kelso, J., Loebe, F., & Visagie, J. (2006). A proposal for a gene functions wiki. In R. Meersman, Z. Tari, & P. Herrero (Eds.), On the move to meaningful internet systems 2006: OTM 2006 workshops (pp. 669-678). New York [u.a.]: Springer.
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2005

Hellmann, I., Prüfer, K., Ji, H. K., Zody, M. C., Pääbo, S., & Ptak, S. E. (2005). Why do human diversity levels vary at a megabase scale? Genome Research, 15(9), 1222-1231.
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The Chimpanzee Sequencing and Analysis Consortium, Mikkelsen, T. S., Hillier, L. W., Eichler, E. E., Zody, M. C., Jaffe, D. B., Yang, S.-P., Enard, W., Hellmann, I., Lindblad-Toh, K., Altheide, T. K., Archidiacono, N., Bork, P., Butler, J., Chang, J. L., Cheng, Z., Chinwalla, A. T., de Jong, P., Delehaunty, K. D., Fronick, C. C., Fulton, L. L., Gilad, Y., Glusman, G., Gnerre, S., Graves, T. A., Hayakawa, T., Hayden, K. E., Huang, X., Ji, H., Kent, W. J., King, M.-C., Kulbokasl, E. J., Lee, M. K., Liu, G., Lopez-Otin, C., Makova, K. D., Man, O., Mardis, E. R., Mauceli, E., Miner, T. L., Nash, W. E., Nelson, J. O., Pääbo, S., Patterson, N. J., Pohl, C. S., Pollard, K. S., Prüfer, K., Puente, X. S., Reich, D., Rocchi, M., Rosenbloom, K., Ruvolo, M., Richter, D. J., Schaffner, S. F., Smit, A. F. A., Smith, S. M., Suyama, M., Taylor, J., Torrents, D., Tuzun, E., Varki, A., Velasco, G., Ventura, M., Wallis, J. W., Wendl, M. C., Wilson, R. K., Lander, E. S., & Waterston, R. H. (2005). Initial sequence of the chimpanzee genome and comparison with the human genome. Nature, 437(7055), 69-87.
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