Caroline is a Senior Lecturer in Genomics at the University of Exeter College of Medicine and Health. Her main research interests are in the clinical application of genome-wide sequencing technologies for the diagnosis of rare diseases. Specifically, she is interested in understanding the penetrance of rare disease-causing variants, improving variant filtering and interpretation, modelling the effect of pathogenic missense variants using in silico protein structural analysis, and exploring the policy and ethical issues associated with implementation of genome-wide sequencing in healthcare.