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Development of a unified Canadian clinical genomic database as a community resource for standardizing and sharing genetic interpretations

2012 Bioinformatics and Computational Biology Competition
Genome Centre(s):
Ontario Genomics
Project Leader(s):
Jordan Lerner-Ellis (Mount Sinai Hospital), Matthew Lebo (Brigham and Women’s Hospital)
Fiscal Year Project Launched: 
Project Description: 

Canadian scientists have made exciting discoveries about the complex relationship between genetic mutations and disease. However, much of this information is spread across dozens of databases in widely differing formats. In order to use this information to improve patient outcomes, researchers and clinicians need a more widely-accessible resource designed for sharing and collaboration.

Drs. Jordan Lerner-Ellis, Matthew Lebo and their team aim to address this issue by creating a shared, open-source genetic database that will amalgamate the work of participating clinical and research laboratories across Canada and internationally. This resource will provide sophisticated new tools for the diagnosis and management of common and rare diseases, while improving the effectiveness of healthcare delivery.