Author: admin

The Executive Committee is charged with overall supervision of the project, and is responsible for budget, scheduling and workgroup coordination. Jordan Lerner-Ellis, PhD, FACMG – PI Mount Sinai Hospital, University of Toronto Matthew Lebo, PhD, FACMG – PI Partners Healthcare Personalized Medicine Brian O’Connor, PhD Ontario Institute of Cancer Research Gary Bader, PhD University of Toronto

The Bioinformatics and IT Workgroup is responsible for sourcing and developing software and other tools to interpret genetic variation; extracting data from participating labs; and making all project information available to the community at large. This workgroup will be developing, refining, and disseminating the novel variants assessment and phenotype cataloguing tools. They will also be responsible

The Data Collection and Standards Workgroup is responsible for defining and monitoring the operational goals of the project, including the scope of data collection, data sources and requirements for shared resources. This group is made up of representatives from each clinical or research laboratory contributing data to the project.  This workgroup will be responsible for collecting

The Outreach and Patient Advocacy Workgroup is responsible for creating awareness of and interest in the long-term benefits of the project, by developing relationships and interactive communications vehicles that will allow the project team to keep all stakeholders up-to-date on our progress, as well as to stay abreast of developments affecting end-users, including patients and groups

Organizations, Projects, and Consortia with Related Missions1000 Genomes Project Canadian College of Medical Geneticists Clinical Genetics Society Clinical Sequencing Exploratory Research Consortium ClinVar DECIPHER Electronic Medical Records and Genomics (eMERGE) Network Exome Sequencing Project (ESP) GeneReviews Human Variome Project International Collaboration for Clinical Genomics International Rare Diseases Research Consortium (IRDiRC) Leiden Open Variation Database (LOVD)