To achieve the goals of this project, we will drive synergistic innovation in four key areas:
- Experimental techniques to measure the function of combinations of cis-acting regulatory variants at several genomic scales;
- Statistical methods and evolutionary principles to model how those interactions influence gene expression and other phenotypes;
- Disease applications revealing different ways that combinations of regulatory elements and variants impact the spectrum from common to ultra rare disease; and
- The first public resource to disseminate datasets detailing the function of noncoding variants, alone and in combination, to basic scientists and translational scientists alike.
Those innovations together will be a windfall for truly understanding the many roles that gene regulation plays in human biology.