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PGG.Han:汉族基因组数据库和分析平台。

PGG.Han: the Han Chinese genome database and analysis platform.

机构信息

Key Laboratory of Computational Biology, Bio-Med Big Data Center, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, China.

School of Life Science and Technology, ShanghaiTech University, Shanghai 201210, China.

出版信息

Nucleic Acids Res. 2020 Jan 8;48(D1):D971-D976. doi: 10.1093/nar/gkz829.

Abstract

As the largest ethnic group in the world, the Han Chinese population is nonetheless underrepresented in global efforts to catalogue the genomic variability of natural populations. Here, we developed the PGG.Han, a population genome database to serve as the central repository for the genomic data of the Han Chinese Genome Initiative (Phase I). In its current version, the PGG.Han archives whole-genome sequences or high-density genome-wide single-nucleotide variants (SNVs) of 114 783 Han Chinese individuals (a.k.a. the Han100K), representing geographical sub-populations covering 33 of the 34 administrative divisions of China, as well as Singapore. The PGG.Han provides: (i) an interactive interface for visualization of the fine-scale genetic structure of the Han Chinese population; (ii) genome-wide allele frequencies of hierarchical sub-populations; (iii) ancestry inference for individual samples and controlling population stratification based on nested ancestry informative markers (AIMs) panels; (iv) population-structure-aware shared control data for genotype-phenotype association studies (e.g. GWASs) and (v) a Han-Chinese-specific reference panel for genotype imputation. Computational tools are implemented into the PGG.Han, and an online user-friendly interface is provided for data analysis and results visualization. The PGG.Han database is freely accessible via http://www.pgghan.org or https://www.hanchinesegenomes.org.

摘要

作为世界上最大的民族群体,汉族在全球自然人群基因组变异目录编制工作中的代表性仍然不足。在这里,我们开发了 PGG.Han,这是一个人口基因组数据库,作为汉族基因组计划(第一阶段)基因组数据的中央存储库。在其当前版本中,PGG.Han 存档了 114783 名汉族个体(又称 Han100K)的全基因组序列或高密度全基因组单核苷酸变异(SNV),代表了覆盖中国 34 个行政区域中的 33 个以及新加坡的地理亚群。PGG.Han 提供:(i)用于可视化汉族人口精细遗传结构的交互式界面;(ii)分层亚群的全基因组等位基因频率;(iii)个体样本的祖先推断和基于嵌套祖先信息标记(AIMs)面板的控制群体分层;(iv)用于基因型-表型关联研究(例如 GWAS)的具有群体结构意识的共享对照数据;以及(v)用于基因型推断的汉族特异性参考面板。计算工具已被实现到 PGG.Han 中,并提供了一个在线用户友好的界面,用于数据分析和结果可视化。PGG.Han 数据库可通过 http://www.pgghan.orghttps://www.hanchinesegenomes.org 免费访问。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76f3/6943055/491fd5b08556/gkz829fig1.jpg

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