Whole genome sequencing studies have revealed over 100,000 disease-linked genetic variants (and counting) but the overwhelming majority (95%) is located in non-coding regions of the genome. These areas are highly enriched in DNA regulatory elements such as gene enhancers that regulate in which cells and under what conditions genes are turned on and off.
A major challenge in interpreting the function of these DNA regulatory elements and variants is that they can be located really far away (up to millions of base pairs) from the genes they regulate on the linear genomic scale. However, the two meters of DNA in each of our cell nuclei is not present in the linear form – it is folded in a manner that differs from cell type to cell type, and it is through this 3D folding of the genome that enhancers come into close proximity to the specific genes they control to regulate their activity.
ENHANC3D Genomics’ disruptive technology profiles this 3D genome folding at high resolution for all genes and their enhancers simultaneously, and thus links gene enhancers and non-coding genetic variants to their target genes to unlock their potential for therapeutic discovery.