Regulation at cis regulatory elements must be controlled by regulatory circuitry.
In the context of disease associations, we are interested in whether the same genetic patterns that give rise to variability in cis regulatory elements are also giving rise to disease susceptibility.
The lab is generally interested in variable functional cis regulatory elements across the human genome. We believe these elements are what gives rise to the diversity we see in human traits from eye color to susceptibility to disease. By incorporating functional genomic analysis in primary cells with genetic profiling, we have an unprecedented opportunity to identify all of these elements and understand the contribution of genetic and epigenetic variation.