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[中国人群参考基因组与遗传变异图谱的数据库资源]

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

作者信息

Song Shuhui, Teng Xu Fei, Xiao Jing Fa

机构信息

BIG Data Center, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China.

CAS Key Laboratory of Genomics and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China.

出版信息

Yi Chuan. 2018 Nov 20;40(11):1048-1054. doi: 10.16288/j.yczz.18-177.

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.

摘要

随着国际人类基因组计划和千人基因组计划的实施,数百个中国人的个体基因组序列已被公布。建立高精度的中国人群参考基因组并识别独特的基因组变异是中国未来精准医学研究的基础。为了进一步满足对快速增长的中国基因组数据进行科学管理和深度挖掘的需求,中国科学院北京基因组研究所基于公开的全基因组测序数据,开发了虚拟中国基因组数据库(VCGDB,http://bigd.big.ac.cn/vcg/)和基因组变异图谱(GVM,http://bigd.big.ac.cn/gvm/),提供数据检索、共享、下载和在线分析的全球服务。本文简要介绍了这两个数据库的特点和功能,以及它们未来的发展和应用前景,旨在为中国参考基因组和基因组变异图谱数据库的推广和发展提供有用信息。

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