Figure 2.

Common data models and annotation ontology enables powered biomarker discovery and validation through the integration of multi-modal data from multiple studies and institutions.

To power biomarker discovery in rare diseases like NF1 and SWN, standardized data collection, annotation, and processing must be widely adopted. This would enable data concatenation and harmonization. Importantly, resultant data, including raw molecular data, should be publicly available and disseminated through data repositories.