The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

By A. Buniello, J. MacArthur, M. Cerezo, Laura W. Harris, J. Hayhurst, Cinzia Malangone, A. McMahon, Joannella Morales, Edward Mountjoy, E. Sollis and 14 more. Nucleic Acids Res., 2018

3,540 citations recorded by the source corpus.

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/.

Subfields: Genetics

View Paper: https://www.semanticscholar.org/paper/c4a71f9579395b92e4696fdf6e9003a54f6eafcf

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In Genetics

Citations in the corpus

Search and sequence analysis tools services from EMBL-EBI in 2022 (2022, neutral): “Since the last update, Open Targets (15), VarSite (16), PDBe-KB (17), GWAS Catalog (18), EMPIAR (19), European Variation Archive Studies (20) and Cellosaurus (21) have been added as new resources.”
The DisGeNET knowledge platform for disease genomics: 2019 update (2019, methodology): “This release of DisGeNET includes a larger number of phenotypes because in this class are included traits, measurements and laboratory test results that are collected mainly by the GWAS catalog (21) and GWASdb (22).”
The next-generation Open Targets Platform: reimagined, redesigned, rebuilt (2022, methodology): “Since the last update, the Genetics portal has integrated new studies deposited in the GWAS Catalog––with or without summary statistics––as well as a series of FinnGen public data releases (17,18).”
A resource-efficient tool for mixed model association analysis of large-scale data (2019, background): “Over the past decade, a number of statistical methods have been developed for GWAS, facilitating the discovery of thousands of genetic loci associated with complex traits and diseases 1,2 .”
Genome-wide prediction of disease variants with a deep protein language model (2022, background): “While most genetic variants associated with common human disease occur in non-coding regions of the genome, variants that affect the amino-acid (AA) sequence of proteins are enriched amongst variants associated with common human disease and cause many rare Mendelian and somatic disorders [5–8].”
webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association study (2021, positive): “Non-UKBB cohorts include GWAS summary statistics from public databases such as GWAS Catalog (28), LD Hub (36), GRASP (31), PhenoScanner (37) and db-GaP (38), as well as summary statistics curated from consortium websites such as PGC (https://www.med.unc.edu/ pgc), MAGIC (https://www.magicinvestigato”
Open Targets Platform: supporting systematic drug–target identification and prioritisation (2020, positive): “The Open Targets Genetics Portal addresses this problem by interpreting manually curated associations from the GWAS catalog, as well as independent signals from GWAS with publicly available summary statistics, most importantly the UK Biobank GWAS data (7,24,25).”
Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics (2020, methodology): “Lastly, studies from the NHGRI-EBI GWAS Catalog which do not have summary statistics are also included, adding a further 14 013 studies (7).”