The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
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DOI：
10.1093/nar/gky1120
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发表时间：
2019-01-08
影响因子：
14.9
通讯作者：
Parkinson, Helen
中科院分区：
文献类型：
--
作者：
Buniello, Annalisa;MacArthur, Jacqueline A. L.;Parkinson, Helen
GWAS目录提供了所有已发表的全基因组关联研究的高质量精选集，使调查能够识别因果变异，了解疾病机制，并建立新疗法的目标。目录的范围也扩大到了靶向和外显子组阵列，为这些技术增加了1000个新的关联。截至2018年9月，该目录包含5687个GWAS，包括来自3567篇出版物的71673个变异性状关联。新内容包括284个全基因组和新靶向阵列研究的完整P值汇总统计数据集，代表6 x 10（9）个个体变异性状统计数据。在过去的12个月里，该目录的用户界面被大约90000名独立用户访问，他们浏览了超过100万页。我们通过发布新的RESTful API（支持高吞吐量编程访问）、改进的Web界面和新的汇总统计数据库，改进了数据访问。拟议的一种新格式支持汇总统计数据的提供，作为汇总统计数据表示的共同体标准。这一格式是根据我们在标准化不同提交材料、绘制格式和统一内容方面的经验制定的。可用性：https://www.ebi.ac.uk/gwas/。
The GWAS Catalog delivers a high-quality curated collection of all published genome-wide association studies enabling investigations to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. The scope of the Catalog has also expanded to targeted and exome arrays with 1000 new associations added for these technologies. As of September 2018, the Catalog contains 5687 GWAS comprising 71673 variant-trait associations from 3567 publications. New content includes 284 full P-value summary statistics datasets for genome-wide and new targeted array studies, representing 6 x 10(9) individual variant-trait statistics. In the last 12 months, the Catalog's user interface was accessed by approximate to 90000 unique users who viewed >1 million pages. We have improved data access with the release of a new RESTful API to support high-throughput programmatic access, an improved web interface and a new summary statistics database. Summary statistics provision is supported by a new format proposed as a community standard for summary statistics data representation. This format was derived from our experience in standardizing heterogeneous submissions, mapping formats and in harmonizing content. Availability: https://www.ebi.ac.uk/gwas/.