The International Genome Sample Resource (IGSR) collection of open human genomic variation resources
The International Genome Sample Resource (IGSR) collection of open human genomic variation resources
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DOI：
10.1093/nar/gkz836
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发表时间：
2020-01-08
影响因子：
14.9
通讯作者：
Flicek, Paul
中科院分区：
文献类型：
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作者：
Fairley, Susan;Lowy-Gallego, Ernesto;Flicek, Paul
为了维持和发展最大的完全开放的人类基因组资源，国际基因组样本资源(https://www.internationalgenome.org))成立了。它建立在1000基因组计划的基础上，该计划创建了最大的可公开访问的人类基因组变异目录，该目录来自五大洲的样本。IGSR(I)保持对1000个基因组计划资源的访问，(Ii)将1000个基因组计划资源更新到GRCh38人类参考汇编，(Iii)添加在1000个基因组计划细胞系上产生的新数据，(Iv)在类似的公开同意下共享来自样本的数据，以增加资源中代表的样本和种群的数量，以及(V)为这些资源的用户提供支持。在最近的更新中，发布了直接在GRCh38上计算的1000基因组计划数据的变异调用，并增加了1000基因组计划第三阶段小组中2504个样本的高覆盖率序列数据。数据门户促进了对IGSR资源的网上探索，现已更新，纳入了不属于1000基因组项目的样本，现在显示了来自多项研究的近5000个样本的数据和样本的统一视图。所有数据都是完全开放的，并可供公众访问。
To sustain and develop the largest fully open human genomic resources the International Genome Sample Resource (IGSR) (https://www.internationalgenome.org) was established. It is built on the foundation of the 1000 Genomes Project, which created the largest openly accessible catalogue of human genomic variation developed from samples spanning five continents. IGSR (i) maintains access to 1000 Genomes Project resources, (ii) updates 1000 Genomes Project resources to the GRCh38 human reference assembly, (iii) adds new data generated on 1000 Genomes Project cell lines, (iv) shares data from samples with a similarly open consent to increase the number of samples and populations represented in the resources and (v) provides support to users of these resources. Among recent updates are the release of variation calls from 1000 Genomes Project data calculated directly on GRCh38 and the addition of high coverage sequence data for the 2504 samples in the 1000 Genomes Project phase three panel. The data portal, which facilitates web-based exploration of the IGSR resources, has been updated to include samples which were not part of the 1000 Genomes Project and now presents a unified view of data and samples across almost 5000 samples from multiple studies. All data is fully open and publicly accessible.