ReviewJournal of general internal medicine2014
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.
Review in Journal of general internal medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 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
90 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Attitudes and beliefs regarding race-targeted genetic testing of Black people: A systematic review.Journal of genetic counseling · 2023Pooled it
- Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.The Journal of allergy and clinical immunology · 2022Pooled it
- Review
- FAIR data gaps and collaboration willingness among hemoglobinopathy research centers.Scientific data · 2026Article
- The continued promise of genomic technologies and software in neurogenetics.Journal of neuromuscular diseases · 2025Review
- One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking.Human mutation · 2025Article
- Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders.International journal of molecular sciences · 2024Review
- Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening.Orphanet journal of rare diseases · 2024Article
- Building national patient registries in Mexico: insights from the MexOMICS Consortium.Frontiers in digital health · 2024Article
- Article
- Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project.Orphanet journal of rare diseases · 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
- Precision medicine via the integration of phenotype-genotype information in neonatal genome project.Fundamental research · 2022Review
- The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.Human mutation · 2022Article
- Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm.Human mutation · 2022Article
- Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond.Human mutation · 2022Article
- CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.Clinical genetics · 2022Review
- An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET.Frontiers in medicine · 2022Review
- Patients' priorities and expectations on an EU registry for rare bone and mineral conditions.Orphanet journal of rare diseases · 2021Article
30 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors.
Funding
Abstract
Research into rare diseases is typically fragmented by data type and disease. Individual efforts often have poor interoperability and do not systematically connect data across clinical phenotype, genomic data, biomaterial availability, and research/trial data sets. Such data must be linked at both an individual-patient and whole-cohort level to enable researchers to gain a complete view of their disease and patient population of interest. Data access and authorization procedures are required to allow researchers in multiple institutions to securely compare results and gain new insights. Funded by the European Union's Seventh Framework Programme under the International Rare Diseases Research Consortium (IRDiRC), RD-Connect is a global infrastructure project initiated in November 2012 that links genomic data with registries, biobanks, and clinical bioinformatics tools to produce a central research resource for rare diseases.
Indexed as
Identifiers
What OpenQuestion holds
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.