Assessment of worldwide human genomic diversity

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The completion of the human genome was arguably one of the greatest scientific achievements of all time.However, the availability of the human genome does not tell us much about why certain individuals or populations are more at risk to certain diseases. What is important is the variation between individuals and populations at specific regions of the genome. Genetic variation between human populations has been previously explored by the HapMap project. This new project is a direct extension of this effort, which was significantly limited in its coverage of human genetic diversity since it intentionally focused on a very smallnumber of populations.Here we will examine one million sites known to be variable in the human genome in over 1,000 individualsworldwide. In addition to the variation in sequence structure, we will include structural variation of the genome (essentially genomic regions that are present in a variable number of copies in different individuals), as such variation has recently been shown to be important in disease.This project will deliver a step change in our knowledge of variation in human genetic diversity and provide an extraordinary public resource for the entire scientific community. This resource will be extremely useful to all researchers in human genetics as it will be possible in a few clicks of a mouse to obtain the geographic distribution for any medically relevant gene. The database will also help researchers to find new genes involved in disease susceptibility and progression.All information will be made immediately available to anyone through the Ensembl web site. The site will also allow researchers to access information on the function of the genes and their known involvement in disease susceptibility and progression.