Connecting variants to functions

Visitors are invited to explore galleries highlighting key discoveries and transformative insights in biomedicine.

Using a pair of high-throughput approaches, researchers sift genome-wide data for key non-coding variants influencing immune function.

Harvard and Broad researchers use miniature 3D models of the human brain to study the biological functions of genetic risk factors

Broad scientists have developed a new approach for studying the functional effects of the millions of mutations associated with cancer and other diseases

The maps can help researchers figure out the function of genes and mechanisms of diseases including inflammatory bowel disease.

Scientists apply the “Perturb-Seq” method to a living organism for the first time

Fifteen studies establish a resource & outline outcomes of the consortium's 10-year effort to explain how DNA variants found in large-scale genetic research influence traits and disease

Studies document extent to which common and rare genetic variants work in concert to shape blood traits and disease risk

Analyses of the largest publicly available catalog of human genomic data reveal new details on rare types of genetic variation and provide better tools for genetic disease diagnosis and drug development.