What is a genome-wide association study (GWAS)?

For purposes of the NIH GWAS policy, a genome-wide association study is defined as a genetic association study in which the density of genetic markers and the extent of linkage disequilibrium is sufficient to capture a large proportion of the common variation in the human genome in the population under study, and the number of specimens genotyped provides sufficient power to detect variants of modest effect.

Genome-wide association studies (GWAS) are conducted using newly available research tools and technologies to rapidly and cost-effectively analyze genetic differences between people with specific illnesses, such as diabetes or heart disease, compared to healthy individuals. The purpose of the studies is to explore the connection between specific genes, known as genotype information, and their outward expression, known as phenotype information and to facilitate the identification of genetic risk factors for the development or progression of disease.  Several NIH institutes recently have launched, or are planning, GWAS initiatives with the expectation that the results will accelerate the development of better diagnostic tools and the design of new, safe, and highly effective treatments.

What are the benefits of sharing GWAS data?

Sharing GWAS Data Improves Health - Sharing genome-based research, including both genotypic and phenotypic information, with a broad number of scientists, will enable medical science to better understand the health needs of the public and facilitate development of new technologies and approaches for the prevention, diagnosis and treatment of disease.

Sharing GWAS Data Maximizes Public Investment - Providing centralized access significantly increases the availability of data for researchers, which is predicted to accelerate the discovery of associations between genetic data and disease while reducing research costs.