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Trends Genet. 2014 Sep;30(9):377-89. doi: 10.1016/j.tig.2014.07.007. Epub 2014 Aug 26.

Toward a new history and geography of human genes informed by ancient DNA.

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New York Genome Center, New York, NY, USA; Department of Biological Sciences, Columbia University, New York, NY, USA. Electronic address:
Department of Genetics, Harvard Medical School, Boston, MA, USA; Howard Hughes Medical Institute, Harvard Medical School, Boston, MA, USA; Broad Institute of the Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA, USA. Electronic address:


Genetic information contains a record of the history of our species, and technological advances have transformed our ability to access this record. Many studies have used genome-wide data from populations today to learn about the peopling of the globe and subsequent adaptation to local conditions. Implicit in this research is the assumption that the geographic locations of people today are informative about the geographic locations of their ancestors in the distant past. However, it is now clear that long-range migration, admixture, and population replacement subsequent to the initial out-of-Africa expansion have altered the genetic structure of most of the world's human populations. In light of this we argue that it is time to critically reevaluate current models of the peopling of the globe, as well as the importance of natural selection in determining the geographic distribution of phenotypes. We specifically highlight the transformative potential of ancient DNA. By accessing the genetic make-up of populations living at archaeologically known times and places, ancient DNA makes it possible to directly track migrations and responses to natural selection.

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