Essays on Science and SocietyGenome-Sequencing Anniversary

The Golden Age of Human Population Genetics

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Science  04 Feb 2011:
Vol. 331, Issue 6017, pp. 547
DOI: 10.1126/science.1202571

The first draft of the genome provided the road map for the past decade of research in human genetics, allowing for the design of platforms that have been used to query variation in populations worldwide and helping to drive down the cost of sequencing by several orders of magnitude. Within years, tens of thousands of complete genome sequences will be available from humans and from extinct hominids, as well as from thousands of other species. Given the human mutation rate, we will soon know of variation among individuals at almost all sites in the genome. For population genetics, this ushers in a previously unimaginable opportunity to reconstruct the entire genealogical and mutational history of humans and pushes us against the limits of what we will be able to infer about the evolutionary and genetic forces that affected every region of the genome. Why are disease mutations present in human populations? What is the genetic basis of our cognitive and physiological adaptations? What was the sequence of demographic events that led to the colonization of the globe by modern humans? Stay tuned, and before long, we should know as much as genetic data alone can tell us.

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