Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer

Abstract

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.

Design, Development And Deployment Of A Web-Based Interoperable Registry For Inherited Retinal Dystrophies In Portugal – The Ird-Pt

“…Furthermore, the use of domain-speci c ontologies adds value to data, through an integrated knowledge base that is searchable and comparable by user and by machines. [10,14] In fact, by resorting to common data elements, core outcome sets, and standardized data structures, the IRD-PT module can support the exchange of data across datasets, facilitating the connection to other registries at an international level. The interoperability of this registry by means of data harmonization is a key feature pointing to its utility and scalability.…”

Design, Development and Deployment of a Web-Based Interoperable Registry for Inherited Retinal Dystrophies in Portugal -The Ird-Pt

“…Furthermore, the use of domain-speci c ontologies adds value to data, through an integrated knowledge base that is searchable and comparable by user and by machines. [17,21] In fact, by resorting to common data elements, core outcome sets, and standardized data structures, the IRD-PT module can support the exchange of data across datasets, facilitating the connection to other registries at an international level. The interoperability of this registry by means of data harmonization is a key feature pointing to its utility and scalability.…”

SCALEUS-FD: A FAIR Data Tool for Biomedical Applications

“…They also seek uncomplicated tools for data sharing so that others can benefit, reproduce scientific work, and give credit [ 13 ]. The principles of the Semantic Web (SW) and Linked Data (LD) assist in solving data integration and interoperability problems, allowing the semantic aggregation of information [ 14 – 16 ]. Indeed, nowadays, semantic technologies are at the core of many systems that support data-intensive research areas, as is the case with system biology, integrative neuroscience, biopharmaceutics, and translational medicine, for example [ 17 ].…”