Month: March 2014

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