GWAS catalog

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The GWAS Catalog is a free online database that compiles data of genome-wide association studies (GWAS), summarizing unstructured data from different literature sources into accessible high quality data. [1] It is one of the most widely used public resources for GWAS research. It was created by the National Human Genome Research Institute (NHGRI) in 2008 and has become a collaborative project between the NHGRI and the European Bioinformatics Institute (EBI) since 2010. [1] As of 2025, the GWAS Catalog contains over 7,400 curated publications and more than 1,040,000 reported SNP-trait associations. [2] The GWAS Catalog also hosts tens of thousands of full genome-wide summary-statistics datasets, available for download for re-analysis and meta-analysis. [3]

Contents

A GWAS identifies genetic loci associated with common traits and disease through the analysis of categorized variants across the genome and the catalog provides information from all published GWAS results that meet its criteria. [4] The catalog contains publication information, study groups information (origin, size) and SNP-disease association information (including SNP identifier, P-value, gene and risk allele). [5] Over the years, the GWAS Catalog has enhanced its data release frequency by adding features such as graphical user interface and ontology-supported search functionality. [4]

The GWAS Catalog is widely used to identify causal variants and understand disease mechanisms by biologists, bioinformaticians and other researchers. [5] [6] [7] [8] [9] GWAS have identified genomic loci associated with diseases such as cardiovascular disease, inflammatory bowel disease, type 2 diabetes and breast cancer. [4]

Applications

Some current applications of the GWAS Catalog include the use of studies on the genetics of human diseases [6] [7] and the heritability of human traits. [8] The GWAS Catalog data can also be used as a pool of markers for SNP studies. [9]

References

  1. 1 2 "About the GWAS Catalog". GWAS Catalog. Retrieved 2019-06-17.
  2. ↑ "GWAS Catalog Home". EBI GWAS Catalog. Retrieved 2025-03-20.
  3. ↑ Cerezo M, Sollis E, Ji Y, Lewis E, Abid A, Bircan KO, Hall P, Hayhurst J, John S, Mosaku A, Ramachandran S, Foreman A, Ibrahim A, McLaughlin J, Pendlington Z, Stefancsik R, Lambert SA, McMahon A, Morales J, Keane T, Inouye M, Parkinson H, Harris LW (2024). "The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity". Nucleic Acids Research. 53 (D1): D998. doi:10.1093/nar/gkae1070.
  4. 1 2 3 MacArthur J, Bowler E, Cerezo M, Gil L, Hall P, Hastings E, et al. (January 2017). "The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)". Nucleic Acids Research. 45 (D1): D896 –D901. doi:10.1093/nar/gkw1133. PMC   5210590 . PMID   27899670.
  5. 1 2 Welter D, MacArthur J, Morales J, Burdett T, Hall P, Junkins H, et al. (January 2014). "The NHGRI GWAS Catalog, a curated resource of SNP-trait associations". Nucleic Acids Research. 42 (Database issue): D1001-6. doi:10.1093/nar/gkt1229. PMC   3965119 . PMID   24316577.
  6. 1 2 Morales J, Welter D, Bowler EH, Cerezo M, Harris LW, McMahon AC, et al. (February 2018). "A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog". Genome Biology. 19 (1): 21. doi: 10.1186/s13059-018-1396-2 . PMC   5815218 . PMID   29448949.
  7. 1 2 Loos RJ, Yeo GS (January 2014). "The bigger picture of FTO: the first GWAS-identified obesity gene". Nature Reviews. Endocrinology. 10 (1): 51–61. doi:10.1038/nrendo.2013.227. PMC   4188449 . PMID   24247219.
  8. 1 2 López-Cortegano E, Caballero A (July 2019). "Inferring the Nature of Missing Heritability in Human Traits Using Data from the GWAS Catalog". Genetics. 212 (3): 891–904. doi:10.1534/genetics.119.302077. PMC   6614893 . PMID   31123044 . Retrieved 7 Nov 2019.
  9. 1 2 Pal LR, Moult J (July 2015). "Genetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association Studies". Journal of Molecular Biology. 427 (13): 2271–89. doi:10.1016/j.jmb.2015.04.014. PMC   4893807 . PMID   25937569.
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