Chinese Academy of Sciences (CAS) Key Laboratory of Computational Biology, Max Planck Independent Research Group on Population Genomics, CAS-MPG Partner Institute for Computational Biology (PICB), Shanghai Institutes for Biological Sciences, CAS, Shanghai 200031, China.
University of Chinese Academy of Sciences, Beijing 100049, China.
Nucleic Acids Res. 2018 Jan 4;46(D1):D984-D993. doi: 10.1093/nar/gkx1032.
There are a growing number of studies focusing on delineating genetic variations that are associated with complex human traits and diseases due to recent advances in next-generation sequencing technologies. However, identifying and prioritizing disease-associated causal variants relies on understanding the distribution of genetic variations within and among populations. The PGG.Population database documents 7122 genomes representing 356 global populations from 107 countries and provides essential information for researchers to understand human genomic diversity and genetic ancestry. These data and information can facilitate the design of research studies and the interpretation of results of both evolutionary and medical studies involving human populations. The database is carefully maintained and constantly updated when new data are available. We included miscellaneous functions and a user-friendly graphical interface for visualization of genomic diversity, population relationships (genetic affinity), ancestral makeup, footprints of natural selection, and population history etc. Moreover, PGG.Population provides a useful feature for users to analyze data and visualize results in a dynamic style via online illustration. The long-term ambition of the PGG.Population, together with the joint efforts from other researchers who contribute their data to our database, is to create a comprehensive depository of geographic and ethnic variation of human genome, as well as a platform bringing influence on future practitioners of medicine and clinical investigators. PGG.Population is available at https://www.pggpopulation.org.
由于下一代测序技术的进步，越来越多的研究致力于描绘与复杂人类特征和疾病相关的遗传变异。然而，识别和优先考虑与疾病相关的因果变异依赖于理解遗传变异在人群内和人群间的分布。PGG.Population 数据库记录了来自 107 个国家的 356 个全球人群的 7122 个基因组，为研究人员了解人类基因组多样性和遗传渊源提供了重要信息。这些数据和信息有助于设计研究，并解释涉及人类群体的进化和医学研究的结果。该数据库在有新数据时会仔细维护和不断更新。我们包括了各种功能和用户友好的图形界面，用于可视化基因组多样性、种群关系（遗传亲和力）、祖先构成、自然选择的痕迹和种群历史等。此外，PGG.Population 为用户提供了一个有用的功能，通过在线插图以动态的方式分析数据和可视化结果。PGG.Population 的长期目标，以及其他为我们的数据库贡献数据的研究人员的共同努力，是创建一个包含人类基因组地理和民族变异的综合存储库，以及一个对未来医学和临床研究人员产生影响的平台。PGG.Population 可在 https://www.pggpopulation.org 上获取。
