2026-04-29T04:09:40Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/95292025-06-17T10:38:58Zcom_20.500.12105_15322com_20.500.12105_2051com_20.500.12105_2052col_20.500.12105_16983col_20.500.12105_19616

00925njm 22002777a 4500 dc Sernadela, Pedro author González-Castro, Lorena author Carta, Claudio author van der Horst, Eelke author Lopes, Pedro author Kaliyaperumal, Rajaram author Thompson, Mark author Thompson, Rachel author Queralt-Rosinach, Núria author Lopez-Martin, Estrella author Wood, Libby author Robertson, Agata author Lamanna, Claudia author Gilling, Mette author Orth, Michael author Merino-Martinez, Roxana author Posada De la Paz, Manuel author Taruscio, Domenica author Lochmüller, Hanns author Robinson, Peter author Roos, Marco author Oliveira, José Luís author 2017 Patient registries are an essential tool to increase current knowledge regarding rare diseases. Understanding these data is a vital step to improve patient treatments and to create the most adequate tools for personalized medicine. However, the growing number of disease-specific patient registries brings also new technical challenges. Usually, these systems are developed as closed data silos, with independent formats and models, lacking comprehensive mechanisms to enable data sharing. To tackle these challenges, we developed a Semantic Web based solution that allows connecting distributed and heterogeneous registries, enabling the federation of knowledge between multiple independent environments. This semantic layer creates a holistic view over a set of anonymised registries, supporting semantic data representation, integrated access, and querying. The implemented system gave us the opportunity to answer challenging questions across disperse rare disease patient registries. The interconnection between those registries using Semantic Web technologies benefits our final solution in a way that we can query single or multiple instances according to our needs. The outcome is a unique semantic layer, connecting miscellaneous registries and delivering a lightweight holistic perspective over the wealth of knowledge stemming from linked rare disease patient registries. Biomed Res Int. 2017;2017:8327980. 2314-6133 http://hdl.handle.net/20.500.12105/9529 29214177 10.1155/2017/8327980 2314-6141 BioMed research international Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer