Next-generation sequencing has transformed diagnosis, prognosis, and treatment across rare disease, cancer, immunology, and infectious disease. As variant interpretation may evolve with emerging evidence, sharing genetic data is essential to improve diagnostic accuracy and advance genomic medicine. However, practical g...
J. Lerner-Ellis, Y. Fisher, Ma'n H. Zawati et al.· American Journal of Human Ge...· 0 citations
With sustained investment and a national vision, Canada has the potential to create a more integrated and effective system for managing rare diseases. In the first article in this series, we argued that Canada needs to move toward a genomics-informed learning health system for rare disease (RD); one in which diagno...
K. Boycott, E. Price, M. Osmond et al.· Open Access Government· 0 citations
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