What is the GWAS Catalog?

The NHGRI-EBI GWAS Catalog is a publicly available resource of Genome Wide Association Studies (GWAS) and their results (Figure 1). It was originally founded in 2008 by the National Human Genome Research Institute (NHGRI), and since 2010 has been a collaboration between the EBI and the NHGRI (1,2,3).

Figure 1 Image showing summary data and karyotype diagram from the GWAS Catalog.

The Catalog contains a vast amount of data and is designed to be easily accessible to scientists who want to use the data. It is searchable and contains useful visualisations of the variant-trait associations, which are mapped onto their chromosomal positions on the human genome. All traits and diseases are mapped onto an ontology to improve searchability.

Find out more about controlled vocabularies and ontologies here.