ReviewMolecular medicine (Cambridge, Mass.)2020
Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics.
Review in Molecular medicine (Cambridge, Mass.), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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.
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Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- Diagnostic Performance of Large Language Models for Orthopedic-Related Rare Diseases and Their Impact on Physicians' Diagnostic Accuracy: 2-Stage Comparative Evaluation Study Based on the Chinese Rare Disease Catalog.Journal of medical Internet research · 2026Article
- Lived Experiences of Patients With Rare Diseases and Healthcare System Barriers: A Phenomenological Study.Journal of nursing management · 2026Article
- RNA-guided clarity: The potential for resolving variant uncertainty in clinical exome sequencing.Genetics in medicine open · 2026Article
- Genomics on FHIR - a feasibility study to support a National Strategy for Genomic Medicine.NPJ genomic medicine · 2025Article
- A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT.Journal of inherited metabolic disease · 2025Article
- Performance of ChatGPT-4o and Four Open-Source Large Language Models in Generating Diagnoses Based on China's Rare Disease Catalog: Comparative Study.Journal of medical Internet research · 2025Article
- Review: Utility of mass spectrometry in rare disease research and diagnosis.NPJ genomic medicine · 2025Review
- A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.Journal of translational medicine · 2025Article
- Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada.JAMA network open · 2024Article
- Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population.Molecular genetics & genomic medicine · 2023Article
- Resources and tools for rare disease variant interpretation.Frontiers in molecular biosciences · 2023Review
- A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.Genome medicine · 2022Review
- Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases.Experimental neurobiology · 2022Review
- Research advances in treatment methods and drug development for rare diseases.Frontiers in pharmacology · 2022Review
- OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfMolecular medicine (Cambridge, Mass.) · 2021Article
- Linking common human diseases to their phenotypes; development of a resource for human phenomics.Journal of biomedical semantics · 2021Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Approximately 400 million people throughout the world suffer from a rare disease. Although advances in whole exome and whole genome sequencing have greatly facilitated rare disease diagnosis, overall diagnostic rates remain below 50%. Furthermore, in cases where accurate diagnosis is achieved the process requires an average of 4.8 years. Reducing the time required for disease diagnosis is among the most critical needs of patients impacted by a rare disease. In this perspective we describe current challenges associated with rare disease diagnosis and discuss several cutting-edge functional genomic screening technologies that have the potential to rapidly accelerate the process of distinguishing pathogenic variants that lead to disease.
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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.