Assessment of worldwide human genomic diversity

全球人类基因组多样性评估

• 批准号: G0800681/1
• 负责人: Francois Balloux
• 金额: $ 56.52万
• 依托单位: Imperial College London
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2009
• 资助国家: 英国
• 起止时间: 2009 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=G0800681%2F1
• 关键词: Assessment; worldwide; human; genomic; diversity

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.

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没有告诉我们为什么某些个人或人群更容易患上某些疾病。重要的是个体和群体之间在基因组特定区域的变异。人类群体之间的遗传变异先前已被HapMap项目探索过。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面上受到了很大的限制，因为它有意地集中在极少数人群上。在这里，我们将检查全世界1,000多个人的100万个已知可变的人类基因组位点。除了序列结构的变异，我们还将包括基因组的结构变异（基本上是不同个体中以不同数量拷贝存在的基因组区域），因为这种变异最近被证明在疾病中很重要。这个项目将在我们对人类遗传多样性变异的认识上带来一个飞跃，并为整个科学界提供一个非凡的公共资源。这个资源将是非常有用的所有研究人员在人类遗传学，因为它将有可能在几次点击鼠标，以获得地理分布的任何医学相关的基因。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。所有信息都将通过Ensembl网站立即提供给任何人。该网站还将允许研究人员访问有关基因功能及其已知参与疾病易感性和进展的信息。