人类变异组计划及其进展

基因组学构建了人类的基因组图谱,后基因组时代的主要任务是解释基因组如何影响生命活动,由此产生了各种新类型的组学:结构基因组学,功能基因组学,蛋白质组学,代谢组学等。人类基因组突变学会于2006年6月在澳大利亚的墨尔本会议上正式启动了人类变异组计划。该计划旨在全球范围内广泛收集所有基因和蛋白质序列变异和多态性的数据,采用全基因组级别的基因型与表型关联等方法,系统地搜索并确定与人类疾病相关的变异,以指导临床应用。鉴于该计划对人类健康领域将产生的潜在影响,文章较为全面地介绍了该计划的起源和主要内容,并对其意义和前景进行了讨论。

The human variome project and its progress

The main goal of post genomics is to explain how the genome, the map of which has been constructed in the Human Genome Project, affacts activities of life. This leads to generate multiple "omics": structural genomics, functional genomics, proteomics, metabonomics, et al. In Jun. 2006, Melbourne, Australia, Human Genome Variation Society (HGVS) initiated the Human Variome Project (HVP) to collect all the sequence variation and polymorphism data worldwidely. HVP is to search and determine those mutations related with human diseases by association study between genetype and phenotype on the scale of genome level and other methods. Those results will be translated into clinical application. Considering the potential effects of this project on human health, this paper introduced its origin and main content in detail and discussed its meaning and prospect.