Clinical Genomics – Bringing genome-scale sequencing into the clinic
My research group is broadly interested in the application of sequencing technologies in medical genetics and genomics, using a combination of wet lab and computational approaches. As a clinician, I am actively involved in the care of patients with hereditary disorders, and the questions that my group investigates have direct relevance to patient care. My research involves the application of next-generation sequencing for translational research projects including gene discovery, diagnostic testing, genomic medicine in healthy adults, and newborn screening. These projects are all intended to contribute to the knowledge base that will be required to make genomic medicine a reality.