Unmet Need
Gene variants are complex to interpret, involving different published methods, databases, algorithms for ranking genes and different prediction tools. Decision support frameworks were created to integrate these various resources into one environment. However, current frameworks are limited by a closed proprietary architecture, limiting its scalability. Thus there is a need for a framework in an open architecture that can scale and integrate as many resources as possible for variant prioritization.
Technology Overview
The technology is an open source decision support system for variant and gene prioritization. The resource catalog is open and modular, allowing it to be actively developed by the developers and the community at the same time.
Stage of Development
Ready for commercialization: There is a functional end user product.
Publications
N/A
