ArticleBioMed research international2017
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.
Article in BioMed research international, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Data quality and patient characteristics in European ANCA-associated vasculitis registries: data retrieval by federated querying.Annals of the rheumatic diseases · 2024Pooled it
- Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).International journal of molecular sciences · 2022Pooled it
- Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.Genome research · 2025Article
- Siblings With Berardinelli-Seip Congenital Lipodystrophy: Clinical Insights and Challenges.Cureus · 2024Article
- Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases.Neurology · 2024Article
- Exploring the potential of tocopherols: mechanisms of action and perspectives in the prevention and treatment of breast cancer.Medical oncology (Northwood, London, England) · 2024Review
- Scoping review of the recommendations and guidance for improving the quality of rare disease registries.Orphanet journal of rare diseases · 2024Article
- Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective.Orphanet journal of rare diseases · 2023Article
- A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance.Orphanet journal of rare diseases · 2023Review
- Identifying congenital generalized lipodystrophy using deep learning-DEEPLIPO.Scientific reports · 2023Article
- Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles: scoping review.Frontiers in public health · 2023Article
- Dietary phytochemicals/nutrients as promising protector of breast cancer development: a comprehensive analysis.Pharmacological reports : PR · 2022Review
- Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study.JMIR formative research · 2022Article
- Opportunities and Challenges for Machine Learning in Rare Diseases.Frontiers in medicine · 2021Review
- Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT.Orphanet journal of rare diseases · 2020Article
- Interoperability of population-based patient registries.Journal of biomedical informatics: X · 2020Article
- SCALEUS-FD: A FAIR Data Tool for Biomedical Applications.BioMed research international · 2020Article
- Review
- Learning from disease registries during a pandemic: Moving toward an international federation of patient registries.Clinics in dermatologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.