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国际基因组样本资源(IGSR)汇集了开放的人类基因组变异资源。

The International Genome Sample Resource (IGSR) collection of open human genomic variation resources.

机构信息

European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.

出版信息

Nucleic Acids Res. 2020 Jan 8;48(D1):D941-D947. doi: 10.1093/nar/gkz836.

Abstract

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.

摘要

为了维持和发展最大的全开放人类基因组资源,国际基因组样本资源库(IGSR)(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公开可访问的人类基因组变异目录,这些变异是从跨越五大洲的样本中开发的。IGSR(i)维护对 1000 基因组计划资源的访问,(ii)将 1000 基因组计划资源更新到 GRCh38 人类参考组装,(iii)添加在 1000 基因组计划细胞系上生成的新数据,(iv)与具有类似开放同意的样本共享数据,以增加资源中代表的样本和人群数量,(v)为这些资源的用户提供支持。最近的更新包括直接在 GRCh38 上计算的 1000 基因组计划数据的变异调用的发布,以及 1000 基因组计划第三阶段面板中 2504 个样本的高覆盖率序列数据的添加。该数据门户促进了基于网络的 IGSR 资源探索,现已更新,包括不属于 1000 基因组计划的样本,并现在呈现了来自多个研究的近 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和公开可访问的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4ae/6943028/7301296a4715/gkz836fig1.jpg

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