ReviewFrontiers in medicine2021
Opportunities and Challenges for Machine Learning in Rare Diseases.
Review in Frontiers in medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
What it found
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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
41 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Review
- Artificial intelligence for postoperative plain radiographic assessment after reverse total shoulder arthroplasty: current evidence, clinical readiness, and limitations.Clinics in shoulder and elbow · 2026Article
- Causality-Guided Machine Learning for Retinoblastoma Survival Prediction: Development and Comparative Evaluation Using SEER.Medical sciences (Basel, Switzerland) · 2026Article
- Artificial Intelligence in Rare Diseases: Workflow-Integrated Precision Kidney Care.Clinics and practice · 2026Review
- dsLassoCov: a federated Lasso approach incorporating covariate control.Scientific reports · 2026Article
- Deep learning detection of retinitis pigmentosa inheritance forms through synthetic data expansion of a rare disease dataset.Scientific reports · 2026Article
- Artificial Intelligence, Connected Care, and Enabling Digital Health Technologies in Rare Diseases With a Focus on Lysosomal Storage Disorders: Scoping Review.Journal of medical Internet research · 2026Article
- Unifying to Advance Understanding: Collaborative, Community-Driven and 'Open' Approaches for Better Science in Sport.Sports medicine (Auckland, N.Z.) · 2026Review
- Privacy-by-Design with Federated Learning will drive future Rare Disease Research.Journal of neuromuscular diseases · 2026Review
- Opportunities and challenges in automated coding of electronic health records: a pilot study for rare disease registries.Frontiers in digital health · 2026Article
- Deep Learning Detection of Retinitis Pigmentosa Inheritance Forms through Synthetic Data Expansion of a Rare Disease Dataset.Research square · 2025Article
- 3D Latent Diffusion Model for MR-Only Radiotherapy: Accurate and Consistent Synthetic CT Generation.Diagnostics (Basel, Switzerland) · 2025Article
- Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals.Orphanet journal of rare diseases · 2025Article
- Mucopolysaccharidosis Type I and α-Mannosidosis-Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations.Biomedicines · 2025Review
- A concept-based interpretable model for the diagnosis of choroid neoplasias using multimodal data.Nature communications · 2025Article
- Review
- Establishment of a Stacking Machine Learning Model Predicting Cardiac Phenotype in Ectopia Lentis Patients Based on Genotype and Ocular Phenotype.International journal of medical sciences · 2025Article
- Update on the medical management of fibrous dysplasia of the bone.Therapeutic advances in endocrinology and metabolism · 2025Review
- drexml: A command line tool and Python package for drug repurposing.Computational and structural biotechnology journal · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare diseases (RDs) are complicated health conditions that are difficult to be managed at several levels. The scarcity of available data chiefly determines an intricate scenario even for experts and specialized clinicians, which in turn leads to the so called "diagnostic odyssey" for the patient. This situation calls for innovative solutions to support the decision process
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.