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The International Genome Sample Resource (IGSR) collection of open human genomic variation resources.
Nucleic Acids Research ( IF 14.9 ) Pub Date : 2020-01-08 , DOI: 10.1093/nar/gkz836
Susan Fairley 1 , Ernesto Lowy-Gallego 1 , Emily Perry 1 , Paul Flicek 1
Affiliation  

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.

中文翻译:

开放人类基因组变异资源的国际基因组样本资源(IGSR)集合。

为了维持和开发最大的完全开放的人类基因组资源,建立了国际基因组样本资源(IGSR)(https://www.internationalgenome.org)。它建立在1000个基因组计划的基础上,该计划创建了一个最大的可公开访问的人类基因组变异目录,该目录是从横跨五大洲的样本开发而来的。IGSR(i)保持对1000个基因组计划资源的访问权,(ii)将1000个基因组计划资源更新到GRCh38人类参考程序集,(iii)添加在1000个基因组计划细胞系中生成的新数据,(iv)与类似地公开同意,以增加资源中所代表的样本和人群的数量;(v)为这些资源的用户提供支持。最近的更新包括发布直接在GRCh38上计算的1000个基因组计划数据的变异调用,以及在1000个基因组计划的第三阶段面板中添加了2504个样本的高覆盖序列数据。数据门户网站(它促进了基于IGSR资源的基于Web的探索)已经更新,包括了不属于“ 1000个基因组计划”一部分的样本,现在可以提供来自多个研究的近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,可以公开访问。已更新,以包括不属于“ 1000基因组计划”一部分的样本,现在可提供来自多个研究的近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,可以公开访问。已更新,以包括不属于“ 1000基因组计划”一部分的样本,现在可提供来自多个研究的近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,可以公开访问。
更新日期:2020-01-06
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