ArticleAmerican journal of human genetics2017
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 119 papers, 3 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.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
119 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Prospective Studies Comparing Structured vs Nonstructured Diagnostic Protocol Evaluations Among Patients With Fever of Unknown Origin: A Systematic Review and Meta-analysis.JAMA network open · 2022Pooled 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
- Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.Nature communications · 2020Pooled it
- Cross-species functional analysis of aResearch square · 2026Article
- Development and Validation of a Cross-Dimensional Screening Protocol for Remote Phenotyping Applied to Individuals With 3q29 Deletion Syndrome.Journal of intellectual disability research : JIDR · 2026Article
- RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- VUStruct: A compute pipeline for high throughput and personalized structural biology.PLoS computational biology · 2026Article
- Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing.medRxiv : the preprint server for health sciences · 2026Article
- Phenotypic prediction of missense variants via deep contrastive learning.Nature biomedical engineering · 2026Article
- Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.NAR genomics and bioinformatics · 2026Article
- Importance and Potential of Rare Disease Research in Pediatric Rheumatology and Beyond: Pushing Frontiers.ACR open rheumatology · 2025Review
- Response to "Is the UDN N-of-1 Enterprise Ethically Justifiable?"AMA journal of ethics · 2025Article
- A statistical framework for evaluating the repeatability and reproducibility of large language models.medRxiv : the preprint server for health sciences · 2025Article
- Immune-cell profiling to guide stratification and treatment of patients with rheumatic diseases.Nature reviews. Rheumatology · 2025Review
- VarPPUD: Pinpointing diagnostic variants from sets of prioritized, strong candidate variants.PLoS computational biology · 2025Article
- Accuracy of Large Language Models in Generating Rare Disease Differential Diagnosis Using Key Clinical Features.Studies in health technology and informatics · 2025Article
- Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Proactive identification of rare diseases: lessons from hereditary angioedema diagnosis using electronic medical records.Orphanet journal of rare diseases · 2025Article
- Benchmark of computational methods to detect digenism in sequencing data.European journal of human genetics : EJHG · 2025Review
- Domain specific phenotypic expansion associated with variants inmedRxiv : the preprint server for health sciences · 2025Article
59 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
14 authors.
Funding
Abstract
Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary, and collaborative in unprecedented ways. Exact disease recognition, an element of the concept of precision in medicine, requires new infrastructure that spans geography, institutional boundaries, and the divide between clinical care and research. The National Institutes of Health (NIH) Common Fund supports the Undiagnosed Diseases Network (UDN) as an exemplar of this model of precise diagnosis. Its goals are to forge a strategy to accelerate the diagnosis of rare or previously unrecognized diseases, to improve recommendations for clinical management, and to advance research, especially into disease mechanisms. The network will achieve these objectives by evaluating patients with undiagnosed diseases, fostering a breadth of expert collaborations, determining best practices for translating the strategy into medical centers nationwide, and sharing findings, data, specimens, and approaches with the scientific and medical communities. Building the UDN has already brought insights to human and medical geneticists. The initial focus has been on data sharing, establishing common protocols for institutional review boards and data sharing, creating protocols for referring and evaluating patients, and providing DNA sequencing, metabolomic analysis, and functional studies in model organisms. By extending this precision diagnostic model nationally, we strive to meld clinical and research objectives, improve patient outcomes, and contribute to medical science.
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.