Activity 1. Design of variant assessment procedures.
To allow clinical and research laboratories alike to classify human genetic variants of all kinds and from all sources in a scalable, robust and automated manner, one key short-term scientific objective is to design and build a variant assessment tool. This tool is freely available to project participants and periodic version updates will be distributed. Having the multiple stakeholders assess variant significance in a systematic, comprehensive, and consistent manner will foster knowledge aggregation from different individuals, institutions, and areas of expertise. The overall effort is to facilitate the process of transforming data-variant holdings into a unified format, while eliminating discrepancies, omissions and duplication of effort.
Activity 2. Data extraction and transfer.
The project team will devise methods and operating procedures to support the extraction of the variant data currently held within participating laboratories in Canada. Our bioinformatics team will be responsible for working with each laboratory to ensure that their data are transmitted safely and efficiently to a central repository.
Activity 3. Data access and dissemination.
Methods will be developed to make the data holdings both extremely accurate and readily accessible by all interested parties, including participating labs, clinicians, geneticists and scientists engaged in basic research. The tools necessary to carry out this phase will be developed in close collaboration with the US-based NCBI clinical genetics repository (ClinVar). To maximize the value of this resource to the community at large, our project team will put plans in place to encourage adoption of a unified platform, as well as to train and educate stakeholders as necessary.