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Fig. 1. The workflow of the Undiagnosed Disease Network. The Undiagnosed Disease Network (UDN) consists of 12 Clinical Sites, Coordinating Center, Metabolomics Core, Sequencing Core, and three Model Organism Screening Centers (MOSCs). In MOSCs, there are Drosophila melanogaster Core, Caenorhabditis elegans Core and two Danio rerio Cores. Individual projects are initiated with participant applications submitted to Coordinating Center. The accepted applications are then forwarded to one of the clinical sites in US. The detailed information of clinical phenotypes is then distributed to Metabolomics Core, Sequencing Core and MOSCs for further analyses. Once submitted to MOSCs, bioinformatical tools such as MARRVEL are utilized to prioritize the candidate genes or variants and then assigned to appropriate MO cores for functional studies. The results from these MO-based analyses are then communicated again with experts in clinical sites.
Exp Neurobiol 2022;31:1~16
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