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Despite examples of excellent practice, rare disease (RD) research is still mainly fragmented by data and disease types. Individual efforts have little interoperability and almost no systematic connection between detailed clinical and genetic information, biomaterial availability or research/trial datasets. By developing robust mechanisms and standards for linking and exploiting these data, RD-Con ...

Currently, clinical diagnosis and monitoring of bladder cancer (BC) relies on invasive, highly costly cystoscopy. Additionally, due to high recurrence rates BC treatment is associated with frequent follow-up of patients, making BC one of the most costly types of cancer in terms of management cost. Thus there is a clear clinical need for the development of new approaches for early detection of recu ...