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Updated: Feb 2, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
[Database resources of the reference genome and genetic variation maps for the Chinese population]
Shuhui Song1,2,3, Xu Fei Teng1,3, Jing Fa Xiao1,2,3
1BIG Data Center, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China.
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.
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