Department of Genetics and Genome Biology, University of Leicester, Leicester, LE1 7RH, UK.
Health Data Research UK (HDR UK), London, UK.
Nucleic Acids Res. 2023 Jan 6;51(D1):D986-D993. doi: 10.1093/nar/gkac1017.
The GWAS Central resource gathers and curates extensive summary-level genome-wide association study (GWAS) data and puts a range of user-friendly but powerful website tools for the comparison and visualisation of GWAS data at the fingertips of researchers. Through our continued efforts to harmonise and import data received from GWAS authors and consortia, and data sets actively collected from public sources, the database now contains over 72.5 million P-values for over 5000 studies testing over 7.4 million unique genetic markers investigating over 1700 unique phenotypes. Here, we describe an update to integrate this extensive data collection with mouse disease model data to support insights into the functional impact of human genetic variation. GWAS Central has expanded to include mouse gene-phenotype associations observed during mouse gene knockout screens. To allow similar cross-species phenotypes to be compared, terms from mammalian and human phenotype ontologies have been mapped. New interactive interfaces to find, correlate and view human and mouse genotype-phenotype associations are included in the website toolkit. Additionally, the integrated browser for interrogating multiple association data sets has been updated and a GA4GH Beacon API endpoint has been added for discovering variants tested in GWAS. The GWAS Central resource is accessible at https://www.gwascentral.org/.
GWAS 中央资源汇集和整理了广泛的全基因组关联研究 (GWAS) 汇总数据,并为研究人员提供了一系列用户友好但功能强大的网站工具,用于比较和可视化 GWAS 数据。通过我们不断努力协调和导入来自 GWAS 作者和联盟以及从公共来源积极收集的数据集,该数据库现在包含超过 7250 项研究的超过 7400 万个独特遗传标记的超过 5000 个测试的 P 值。在这里,我们描述了一个更新,将这个广泛的数据收集与小鼠疾病模型数据集成,以支持对人类遗传变异功能影响的深入了解。GWAS 中央已经扩展到包括在小鼠基因敲除筛选过程中观察到的小鼠基因-表型关联。为了允许比较类似的跨物种表型,已经映射了哺乳动物和人类表型本体论中的术语。网站工具包中包含了用于查找、关联和查看人类和小鼠基因型-表型关联的新交互式界面。此外,用于查询多个关联数据集的集成浏览器已更新,并添加了 GA4GH Beacon API 端点,用于发现 GWAS 中测试的变体。GWAS 中央资源可在 https://www.gwascentral.org/ 访问。