View Video Online Duration: 1 hr 41 min
With the plummeting cost of sequencing, genetic data are becoming increasingly available for use in the diagnosis, treatment, and prediction of disease. However, integrating genetic information into the practice of medicine in a robust and effective manner is challenging at every step from sequencing to clinical care. Most challenging is the interpretation of the variants identified in each test. Critical to variant analysis is access to existing knowledge on previously reported variants. Hundreds of thousands of disease-causing variants have been identified in patients with disease, yet only a small fraction of that data, and the interpretation of it, has been accessible to researchers and clinicians. The centralization of data on human genomic variation is a critical step in accelerating advances within the field of genomic medicine.