Functional genome annotation of the non-coding genome
We provide genome-specific regulatory maps of the non-coding genome that can help explain phenotypic differences between strains or individuals, or serve as a roadmap for genome editing.
The majority of disease or trait causing mutations are thought to act by disrupting regulatory elements rather than by disrupting genes themselves. A major challenge is that we cannot from DNA sequence alone tell which mutations affect such regulatory elements. This is because we do not understand the regulatory ‘code’ in the way that we do understand the ‘code’ for genes. Therefore, having genome-specific regulatory maps of promoter and enhancers functionality can help you find the mutations that matter (see figure below).
Figure legend. Having genome-specific regulatory maps can help identify functional mutations among millions of non-functional ones. See main text for further explanation.