Genomic medicine

Our overarching goal is to unlock the full potential of genomic data for genomic medicine: given near-complete genomic information from a patient, what can we reliably infer to improve their clinical care? We pursue this goal by developing foundational, scalable, and interpretable computational frameworks that guide us through the full 'genomic medicine cycle' – beginning with the discovery of disease-associated variants (variant-to-disease), progressing toward understanding their molecular mechanisms (variant-to-function), and culminating in translating these insights into improved patient care (variant-to-care). Our group is based in the Department of Human Genetics at the University of Chicago, affiliated with the Broad Institute of MIT and Harvard, and working synergistically with researchers and clinicians at UChicago Medicine and cross-disciplinary consortia teams around the world.