Genomics research is at the center of our endeavor to understand the structure, function, and evolution of our genome and its role in variations of biological traits and diseases. Regulatory genomics and epigenomics research aims to understand how the timing, quantity and variant forms of gene activity are controlled both by regulatory elements in the DNA sequences and by chemicals that bind and modify the DNA and the chromatins. The study of the genome, the regulatory genome and the epigenome together sheds light on the human genome as a dynamic system shaped by DNA sequences that is invariant in an individual’s life span and by chemical modifications through intrinsic and external factors. Eventually, we hope that research in these areas will uncover the secret of how the human genome defines our species, the individuals and their health.
DCMB faculty members’ research in these areas spans from basic science to clinical applications, as well as the development of tools and methods that enable the advancement of the field. A major focus of our research is to identify genetic variations in both the coding and non-coding regions of the genome and the epigenome (Abecasis, Li, Parker, Mills, Willer), and investigate their impact on disease phenotypes (Abecasis, Li, Parker, Speliotes, Tsoi, Willer). In addition, we also carry out research in the following areas: using nucleosome measurements to provide insight into the structure of the nucleus (Athey, Rajapakse); studying the impact of genomic variations on phenotype diversity through genomics research on both human genome and the genomes of other species (Kidd); combining computational approaches with high-throughput biological assays to understand the whole human transcriptional regulatory system (Boyle, Parker). In the area of methods development, DCMB faculty members also develop computational approaches for mining multiple types of genomics data and understanding the impact of genomic variation in context (Sartor, Guan), sequencing methods to experimentally resolve the haplotype phase of variants and saturation mutagenesis to dissect sequence-function relationships (Kidd, Kitzman), methods for gene set enrichment testing and for the analysis of whole-genome methylation (Sartor), and linkage disequilibrium based mapping strategies for the search of complex disease susceptibility genes (Abecasis).