The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
Abstrak
Abstract 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/.
Topik & Kata Kunci
Penulis (24)
A. Buniello
J. MacArthur
M. Cerezo
Laura W. Harris
J. Hayhurst
Cinzia Malangone
A. McMahon
Joannella Morales
Edward Mountjoy
E. Sollis
D. Suveges
Olga Vrousgou
P. Whetzel
R. Amode
José Guillén
H. Riat
S. Trevanion
Peggy Hall
Heather Junkins
P. Flicek
Tony Burdett
L. Hindorff
Fiona Cunningham
H. Parkinson
Akses Cepat
- Tahun Terbit
- 2018
- Bahasa
- en
- Total Sitasi
- 3468×
- Sumber Database
- Semantic Scholar
- DOI
- 10.1093/nar/gky1120
- Akses
- Open Access ✓