遗传 ›› 2018, Vol. 40 ›› Issue (11): 1048-1054.doi: 10.16288/j.yczz.18-177

• 资源与平台 • 上一篇    

中国人群参考基因组及基因组变异图谱资源库

宋述慧1,2,3,滕徐菲1,3,肖景发1,2,3()   

  1. 1. 中国科学院北京基因组研究所,中国科学院生命与健康大数据中心,北京 100101
    2. 中国科学院北京基因组研究所基因组科学与信息重点实验室,北京 100101
    3. 中国科学院大学,北京 100049
  • 收稿日期:2018-05-24 修回日期:2018-09-10 出版日期:2018-11-20 发布日期:2018-09-11
  • 通讯作者: 肖景发 E-mail:xiaojingfa@big.ac.cn
  • 作者简介:宋述慧,博士,副研究员,研究方向:生物信息学。E-mail: songshh@big.ac.cn|滕徐菲,在读硕士研究生,专业方向:生物信息学。E-mail: tengxufei@big.ac.cn,宋述慧和滕徐菲并列第一作者。
  • 基金资助:
    国家自然科学基金项目(31771465);中国科学院“十三五”信息化建设专项:大数据驱动的生物信息领域创新示范平台项目(XXH13505-05);中国科学院青年创新促进会项目(2017141)

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

Song Shuhui1,2,3,Teng Xufei1,3,Xiao Jingfa1,2,3()   

  1. 1. BIG Data Center, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China
    2. CAS Key Laboratory of Genomics and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China
    3. University of Chinese Academy of Sciences, Beijing 100049, China
  • Received:2018-05-24 Revised:2018-09-10 Online:2018-11-20 Published:2018-09-11
  • Contact: Xiao Jingfa E-mail:xiaojingfa@big.ac.cn
  • Supported by:
    Supported by the National Natural Science Foundation of China(31771465);the 13th Five-year Informatization Plan of Chinese Academy of Sciences(XXH13505-05);Youth Innovation Promotion Association(2017141)

摘要:

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。

关键词: 中国人群, 参考基因组, 变异图谱

Abstract:

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.

Key words: Chinese population, reference genome, variation map