Ten years after the completion of the Human Genome Project, its application to diagnosis, prevention, and treatment of diseases is still work in progress. The reason for this is that functional annotation has concentrated primarily on the ~2% of the genome that encodes proteins. However, the genome also harbours non-coding sequences that regulate gene expression and are critical for normal embryonic development. Mutations in these regulatory sequences are often associated with disease risk. Regulatory sequences comprise very diverse and difficult to characterize types of sequences, such as promoters, located near the genes they regulate, and enhancers, as far as hundreds of thousands to millions of base pairs away from any annotated genes. Recent studies have identified particular chromatin modifications that define functionally distinct strong non-coding sequences, yet it is still unclear how chromatin analyses can be leveraged to understand the underlying molecular mechanisms. As a result, the systematic identification of regulatory sequences remains a challenging problem.

We are interested in:

  • Advancing our knowledge of the structure, function, and evolution of regulatory sequences;

  • Gaining a predictive understanding of disease processes at the network level, to enable targeted and personalized therapeutic interventions.