Genome-wide Association Studies

A genome-wide association study (GWAS) is an approach to compare the genomes from many different people to find genetic markers associated with a particular phenotype or risk of disease. The goal is to understand how genes contribute to the disease and to use that understanding to help develop better prevention and treatment strategies.

The Division maintains a robust research program including GWAS for a number of cancers, and more recently, exposures and survival. Researchers apply fine-mapping and deep sequencing techniques to regions or loci identified by these scans to pinpoint the specific functional variants responsible for disease risk and the biologic mechanisms involved.

Large-scale consortial arrangements make it possible to combine study resources in a coordinated intramural/extramural approach that enables rapid replication of positive findings using independent data sets. When reproducible findings emerge, the pooling of data sets provides the statistical power to quantify the risks associated with specific gene variants and exposures, and enables subset analyses that can uncover gene-gene and gene-environment interactions. This collaborative infrastructure presents the cancer research community with an extraordinary opportunity to advance research while taking advantage of economies of scale. It also provides an opportunity for NCI to partner with other NIH institutes to investigate a series of complex diseases and traits including diabetes, cardiovascular, neurological disorders, obesity, and smoking behaviors.

By making the data available through rapid posting, NIH can leverage its resources to ensure that the dramatic advances in genomics are incorporated into rigorous population-based studies. Ultimately, findings from these studies may yield new preventive, diagnostic, and therapeutic interventions for cancer.

Read the DCEG data sharing policy.

Browse DCEG scientific publications on genome-wide association studies.