中国人群参考基因组及基因组变异图谱资源库

随着人类基因组计划和国际千人基因组计划的实施,已公开数百个中国人个体的全基因组数据。建立高精度的中国人群参考基因组序列,发现并解析中国人群特有的序列变异,是我国未来精准医学研究的基础。为满足未来精准医学研究中国人基因组数据持续增长的科学管理和深入研究的需求,中国科学院北京基因组研究所发展并建立了基于中国人群全基因组测序数据的虚拟中国人基因组数据库(Virtual Chinese Genome Database, VCGDB)和中国人群基因组变异数据库(Genome Variation Map, GVM),面向国内外用户提供数据检索、共享、下载和在线分析服务。本文重点介绍了这两个数据库的特点和功能,以及未来发展与应用前景,以期为中国人群参考基因组及基因组变异图谱资源库的推广使用、发展完善提供有益信息。

Database resources of the reference genome and genetic variation maps for the Chinese population

With the implementation of the international human genome project and 1000 genome project, hundreds of Chinese individual genome sequences have been published. Establishing a high-precision Chinese population reference genome and identifying the unique genome variations are fundamental for future precision medicine research in China. To further meet the needs of scientific management and deep mining on the rapidly growing Chinese genomic data, Beijing Institute of Genomics, Chinese Academy of Sciences, has developed a Virtual Chinese Genome Database (VCGDB, http://bigd.big.ac.cn/vcg/) and Genome Variation Map (GVM, http://bigd.big.ac.cn/gvm/) based on the public whole genome sequencing data, which provides the worldwide services of data retrieval, sharing, downloading and online analysis. This paper presents the brief introduction of characteristics and functions of the two databases, as well as their future development and application prospects, aiming to provide useful information for the promotion and development of the reference genome and genome variation map database in China.