A brief history of palaeogenomics: How a young discipline revolutionised the study of the past


In only a few short years, the ancient DNA field has transformed from an anecdotal and artisanal discipline into one of the most dynamic current scientific fields, generating massive genomic data from hundreds of past individuals. These include extinct hominins such as Neanderthals and Denisovans and prehistoric humans, and have provided information about the recent settlement of the continents. The field of palaeogenomics gives direct space and time information about the adaptive and demographic aspects of human populations and reveals complex patterns of past migrations that can help us to understand our current diversity. The development of this discipline is a unique opportunity to establish partnerships with archaeologists and anthropologists and to build up a multidisciplinary approach to the study of the past.


human evolution; Neanderthals; genomics; prehistory

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  • Cooper, A., Lalueza-Fox, C., Anderson, S., Rambaut, A., Austin, J., & Ward, R. (2001). Complete mitochondrial genome sequences of two extinct moas clarify ratite evolution. Nature, 409, 704–707. doi: 10.1038/35055536

  • Cooper, A., & Poinar, H. N. (2000). Ancient DNA: Do it right or not at all. Science, 289, 1139. doi: 10.1126/science.289.5482.1139b 

  • Fu, Q., Posth, C., Hajdinjak, M., Petr, M., Mallick, S., Fernandes, D., ... Reich, D. (2016). The genetic history of Ice Age Europe. Nature, 534, 200–205. doi: 10.1038/nature17993

  • Green, R. E., Krause, J., Briggs, A. W., Maricic, T., Stenzel, U., Kircher, M., ... Pääbo, S. (2010). A draft sequence of the Neandertal genome. Science, 328, 710–722. doi: 10.1126/science.1188021 

  • Haak, W., Lazaridis, I., Patterson, N., Rohland, N., Mallick, S., Llamas, B., ... Reich, D. (2015). Massive migration from the steppe was a source for Indo-European languages in Europe. Nature, 522, 207–211. doi: 10.1038/nature14317

  • Higuchi, R., Bowman, B., Freiberger, M., Ryder, O. A., & Wilson, A. C. (1984). DNA sequences from the quagga, an extinct member of the horse family. Nature, 312, 282–284. doi: 10.1038/312282a0

  • Hofreiter, M., Serre, D., Poinar, H. N., Kuch, M., & Pääbo, S. (2001). Ancient DNA. Nature Reviews Genetics, 2, 353–359. doi: 10.1038/35072071

  • Krings, M., Stone, A., Schmitz, R. W., Krainitzki, H., Stoneking, M., & Pääbo, S. (1997). Neandertal DNA sequences and the origin of modern humans. Cell, 90, 19–30. doi: 10.1016/S0092-8674(00)80310-4

  • Lalueza-Fox, C., Römpler, H., Caramelli, D., Stäubert, C., Catalano, G., Hughes, D., ... Hofreiter, M. (2007). A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals. Science, 318, 1453–1455. doi: 10.1126/science.1147417

  • Lazaridis, I., Patterson, N., Mittnik, A., Renaud, G., Mallick, S.,  Kirsanow, K., ... Krause, J. (2014). Ancient human genomes suggest three ancestral populations for present-day Europeans. Nature, 513, 409–413. doi: 10.1038/nature13673

  • Meyer, M., Arsuaga, J. L., De Filippo, C., Nagel, S., Aximu-Petri, A., Nickel, B., ... Pääbo, S. (2016). Nuclear DNA sequences from the Middle Pleistocene Sima de los Huesos hominins. Nature, 531, 504–507. doi: 10.1038/nature17405

  • Meyer, M., Fu, Q., Aximu-Petri, A., Glocke, I., Nickel, B., Arsuaga, J. L., ... Pääbo, S. (2014). A mitochondrial genome sequence of a hominin from Sima de los Huesos. Nature, 505, 403–406. doi: 10.1038/nature12788

  • Olalde, I., Allentoft, M. E., Sánchez-Quinto, F., Santpere, G., Chiang, C. W. K., DeGiorgio, M., ... Lalueza-Fox, C. (2014). Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European. Nature, 507, 225–228. doi: 10.1038/nature12960

  • Pääbo, S. (1985). Molecular cloning of Ancient Egyptian mummy DNA. Nature, 314, 644–645. doi: 10.1038/314644a0

  • Rasmussen, M., Li, Y., Lindgreen, S., Pedersen, J. S., Albrechtsen, A., Molt­ke, I., ... Willerslev, E. (2010). Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature, 463, 757–762. doi: 10.1038/nature08835

  • Reich, D., Green, R. E., Kircher, M., Krause, J., Patterson, N., Durand, E. Y., ... Pääbo, S. (2010). Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature, 468, 1053–1060. doi: 10.1038/nature09710

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