Mardis Lab Research

My research interests predominate in DNA sequencing-related technologies. As Co-Director of the Genome Sequencing Center, I help to select genomes of interest and evaluate the optimal sequencing strategy to apply to each genome. As Director of Technology Development at the GSC, I explore and optimize the most current technologies related to DNA sequencing, both from the standpoint of commercially available kits and instrumentation to the development of custom devices. These efforts have resulted in many advances that have enabled Genome Sequencing Center production sequencing efforts to progress to higher and higher levels of throughput, efficiency and cost-savings over the years, and those efforts continue. In addition, I am investigating using novel massively parallel DNA sequencing instruments to re-sequence human genomes, namely in the context of understanding disease-specific somatic mutations that may predict disease onset or outcomes. This new frontier for genome sequencing of the human will continue to fuel medical discoveries for many years to come.

I also have an active interest in the use of microarray technology, not only for gene expression profiling on spotted arrays using long oligonucleotide probes, but also for exploring large-scale amplification and deletion of segments of the human genome using BAC tile path arrays. These array CGH assays will provide an important adjunct to the information gained from mutational profiling of human patient samples, in helping to understand large-scale phenomena in the course of diseases, especially cancer.