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Genomics

We have worked since the earliest days of genome sequencing to try to understand the architecture of the human genome and develop methods to best translate those insights for the practice of medicine. We are particularly interested in the genetics of cardiovascular health and disease. For example, we recently used clinical genetic data from hypertrophic cardiomyopathy patients and over 100,000 population controls to identify domains within the 3 dimensional structure of the cardiac myosin protein that have an increased burden of disease variants. We are fascinated by graph theory and develop network methods to identify communities of genes that play a role in the heart’s adaptation to hypertrophy and heart failure. When we identify genes or domains of importance, we plan wet lab experiments to extend our causal inference (see Cardiac Biology and Mechanotransduction). Through this and other similar work, we hope to gain a stronger understanding of the molecular and genetic mechanisms of cardiomyopathies and heart failure. We are constantly extending our early work developing methods for interpretation of the human genome and now routinely apply genome sequencing to the diagnosis of patients at Stanford hospitals and though the Undiagnosed Diseases Network. We are very focused on technical accuracy and making genome sequencing “clinical grade”. We work closely with the FDA via precisionFDA to achieve these aims.