HudsonAlpha Faculty Investigator Greg Cooper, PhD, and his lab are focused on understanding the genomic basis of human disease, with a particular interest in rare developmental disorders. By combining experimental and computational techniques, the group identifies pathogenic variants that cause disease, determines the mechanisms of action of these genes in disease pathogenesis, and applies the information in the clinic to help provide diagnoses to individuals with rare, undiagnosed diseases.

In addition to gene discovery, the Cooper lab is also involved in the development of methods to aid in the interpretation of genome sequence data. For example, Cooper’s lab along with colleagues at the University of Washington published a manuscript describing a new method for annotating and interpreting human genetic variation called Combined Annotation-Dependent Depletion (CADD). CADD scores are still widely used to evaluate the potential disease relevance of genetic variants in the human genome.