Assessment of worldwide human genomic diversity

人类基因组的完成可以说是有史以来最伟大的科学成就之一。然而，人类基因组的可用性并不能告诉我们为什么某些个体或群体更容易患某些疾病。重要的是个体和群体之间在基因组特定区域的差异。人类种群间的遗传变异已经被HapMap项目研究过。这个新项目是这一努力的直接延伸，这一努力在人类遗传多样性的覆盖范围上受到很大限制，因为它有意地将重点放在极少数人群上。在这里，我们将检查全球1000多人的人类基因组中已知的100万个可变位点。除了序列结构的变异，我们还将包括基因组的结构变异（本质上是存在于不同个体的不同拷贝数的基因组区域），因为这种变异最近被证明在疾病中很重要。该项目将使我们对人类遗传多样性变异的认识发生重大变化，并为整个科学界提供非凡的公共资源。这一资源对所有人类遗传学研究人员都非常有用，因为只需点击几下鼠标，就可以获得任何医学相关基因的地理分布。该数据库还将帮助研究人员发现与疾病易感性和进展有关的新基因。所有信息将立即通过Ensembl网站提供给任何人。该网站还将允许研究人员获取有关基因功能的信息，以及它们在疾病易感性和进展中的已知作用。

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.