During graduate school, Dr. Schuler utilized whole exome and whole genome sequencing to identify genetic changes that could be responsible for undiagnosed genetic disorders in multiple families followed by experimental approaches to causally link those genetic changes with disease. He continues to have an interest in improving our ability to increase the efficiency and accuracy of diagnosing genetic disease. His work focuses on the utilization of biomedical informatics approaches, biobanked DNA, and electronic health record data to identify undiagnosed genetic disease. The goal of this work is to expand our knowledge of phenotypic associations, recognize clinical patterns, and identify ways to improve diagnosis and management of genetic disease.