ReviewJAMIA open2020
The case for open science: rare diseases.
Review in JAMIA open, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis 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
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis.Orphanet journal of rare diseases · 2023Pooled it
- A weakly supervised transformer for rare disease diagnosis and subphenotyping from EHRs with pulmonary case studies.NPJ digital medicine · 2026Article
- The Development of the Biobank Collections Valuator as an Automated Tool to Determine the Noneconomic Value of Sample Collections.Biopreservation and biobanking · 2026Article
- RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.NPJ genomic medicine · 2025Article
- Biorepositories For Global Rare Disease Research: A Narrative Review.Current rheumatology reports · 2025Review
- International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.NPJ genomic medicine · 2025Review
- A phenotype-based AI pipeline outperforms human experts in differentially diagnosing rare diseases using EHRs.NPJ digital medicine · 2025Article
- Dataset for a qualitative interview study exploring the barriers and facilitators to using and recommending aspirin for cancer prevention.Health psychology and behavioral medicine · 2025Article
- Applying Findable, Accessible, Interoperable, and Reusable Principles to Biospecimens and Biobanks.Biopreservation and biobanking · 2024Article
- Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.Nature genetics · 2024Article
- A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.medRxiv : the preprint server for health sciences · 2024Article
- Review
- Folliculin gene-negative Birt-Hogg-Dube syndrome: a case report.Annals of medicine and surgery (2012) · 2024Article
- Privacy risks of whole-slide image sharing in digital pathology.Nature communications · 2023Article
- The Right to Ask, the Need to Answer-When Patients Meet Research: How to Cope with Time.International journal of environmental research and public health · 2023Article
- Article
- Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries.Orphanet journal of rare diseases · 2022Article
- How often do cancer researchers make their data and code available and what factors are associated with sharing?BMC medicine · 2022Article
- Towards values-based healthcare for inherited metabolic disorders: An overview of current practices for persons with liver glycogen storage disease and fatty acid oxidation disorders.Journal of inherited metabolic disease · 2022Review
- Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond.Human mutation · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors.
Funding
Abstract
The premise of Open Science is that research and medical management will progress faster if data and knowledge are openly shared. The value of Open Science is nowhere more important and appreciated than in the rare disease (RD) community. Research into RDs has been limited by insufficient patient data and resources, a paucity of trained disease experts, and lack of therapeutics, leading to long delays in diagnosis and treatment. These issues can be ameliorated by following the principles and practices of sharing that are intrinsic to Open Science. Here, we describe how the RD community has adopted the core pillars of Open Science, adding new initiatives to promote care and research for RD patients and, ultimately, for all of medicine. We also present recommendations that can advance Open Science more globally.
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.