全基因组关联研究
汇总统计
接口(物质)
生物
计算生物学
外显子组
计算机科学
数据科学
单核苷酸多态性
情报检索
遗传学
统计
外显子组测序
生物化学
肺表面活性物质
吉布斯等温线
基因
数学
基因型
突变
作者
Annalisa Buniello,Jacqueline MacArthur,María Cerezo,Laura W. Harris,James Hayhurst,Claudio Malangone,Aoife McMahon,Joannella Morales,Edward Mountjoy,Elliot Sollis,Dániel Süveges,Olga Vrousgou,Patricia L. Whetzel,Ridwan Amode,José Ángel Guillén,Harpreet Singh Riat,Stephen J. Trevanion,Peggy Hall,Heather Junkins,Paul Flicek
摘要
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 × 109 individual variant-trait statistics. In the last 12 months, the Catalog's user interface was accessed by ∼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/.
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