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day 2

WORKSHOP RD-Connect: an integrated platform connecting databases, registries and omics data for rare disease research

Co-chaired by Sergi Beltran (CNAG, Barcelona), Marco Roos (LUMC, Leiden), and RD-Connect partners

Research into rare diseases is typically fragmented by data type and disease. Individual efforts often have poor interoperability and do not systematically connect data across clinical phenotype, genomic data, biomaterial availability, and research/trial data sets. Such data must be linked at both an individual-patient and whole cohort level to enable researchers to gain a complete view of their disease and patient population of interest.

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