Why do we need the GWAS Catalog?

Genome Wide Association Studies (GWAS) are often the first-choice approach for investigating links between genotype and phenotype. This is because they are an effective method of identifying associations between chromosomal regions (loci) and traits (e.g. a disease).

GWAS have been particularly useful in identifying loci associated with complex diseases where there are multiple loci that can cause that disease (i.e. the disease is multifactorial), such as obesity. They are also able to detect relatively small genetic effects.

With this wealth of useful genotype-phenotype mapping data available from numerous studies in the literature, it is important to have a central repository where all of this data is stored, and accessible to the scientific community (Figure 4).