EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Atalaia Antonio, Wandrei Dagmar, Lalout Nawel, Thompson Rachel, Tassoni Adrian, 't Hoen Peter A C, Athanasiou Dimitrios, Baker Suzie-Ann, Sakellariou Paraskevi, Paliouras Georgios, D'Angelo Carla, Horvath Rita, Mancuso Michelangelo, van der Beek Nadine, Kornblum Cornelia, Kirschner Janbernd, Pareyson Davide, Bassez Guillaume, Blacas Laura, Jacoupy Maxime, Eng Catherine, Lamy François, Plançon Jean-Philippe, Haberlova Jana, Brusse Esther, Hoeijmakers Janneke G J, de Visser Marianne, Claeys Kristl G, Paradas Carmen, Toscano Antonio, Silani Vincenzo, Gyenge Melinda, Reviers Evy, Hamroun Dalil, Vroom Elisabeth, Wilkinson Mark D, Lochmuller Hanns, Evangelista Teresinha
Аннотация
RESULTS: The registry has three-layered datasets, with European Commission-mandated data elements (EU-CDEs), a set of cross-neuromuscular data elements (NMD-CDEs) and a dataset of disease-specific data elements that function modularly (DS-DEs). The registry captures clinical, neuromuscular imaging, neuromuscular histopathology, biological and genetic data and patient-reported outcomes in a computer-interpretable format using selected ontologies and classifications. The EURO-NMD registry is connected to the EURO-NMD Registry Hub through an interoperability layer. The Hub provides an entry point to other neuromuscular registries that follow the FAIR data stewardship principles and enable GDPR-compliant information exchange. Four national or disease-specific patient registries are interoperable with the EURO-NMD Registry, allowing for federated analysis across these different resources.
CONCLUSIONS: Collectively, the Registry Hub brings together data that are currently siloed and fragmented to improve healthcare and advance research for neuromuscular diseases.