Robert Hegele at the Robarts Research Institute and Steve Scherer at SickKids are leading an innovative project which aims to bridge new biological knowledge with medical applications. The project will deliver a “new improved edition” of the human genome map; one that annotates and characterizes large¬scale copy number variants, alternative splicing profiles of genes in selected tissues and previously unknown genes and other functional elements. Hegele and collaborators will apply the annotated genome map with its rich trove of new biological information to unravel the genetic basis of diseases that extract a huge social and economic toll in Canada, such as diabetes, heart disease and breast cancer. The data generated from the project will be made available, free of charge, on the Internet, in order to accelerate biomedical discovery, including the diagnosis and treatment of common diseases.
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