ReviewGenetics research2015
The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.
Review in Genetics research, 2015. 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.
- Unifying the odyssey: artificial intelligence for rare disease diagnosis and therapy.Health and technology · 2026Article
- From memorization to generalization: fine-tuning large language models for biomedical term-to-identifier normalization.Frontiers in digital health · 2026Article
- Performance of Large Language Models in Diagnosing Rare Hematologic Diseases and the Impact of Their Diagnostic Outputs on Physicians: Combined Retrospective and Prospective Study.Journal of medical Internet research · 2025Article
- The Diagnostic Value of High-Frequency Ultrasound in Unclarified Lesions at the End of Extremities.Diagnostics (Basel, Switzerland) · 2025Article
- Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies.Frontiers in cell and developmental biology · 2022Review
- Agreement and Reliability Analysis of Machine Learning Scaling and Wireless Monitoring in the Assessment of Acute Proximal Weakness by Experts and Non-Experts: A Feasibility Study.Journal of personalized medicine · 2022Article
- Finding commonalities in rare diseases through the undiagnosed diseases network.Journal of the American Medical Informatics Association : JAMIA · 2021Observational
- The future of genomics in Ireland - focus on genomics for health.HRB open research · 2020Article
- The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.Acta ophthalmologica · 2019Article
- RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.Nucleic acids research · 2019Article
- Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.Molecular genetics & genomic medicine · 2019Article
- GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data.BMC bioinformatics · 2019Article
- Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.Frontiers in genetics · 2018Review
- Drugs for rare disorders.British journal of clinical pharmacology · 2017Article
- Industrializing rare disease therapy discovery and development.Nature biotechnology · 2017Article
- Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis.G3 (Bethesda, Md.) · 2016Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There are an estimated 6000-8000 rare Mendelian diseases that collectively affect 30 million individuals in the United States. The low incidence and prevalence of these diseases present significant challenges to improving diagnostics and treatments. Next-generation sequencing (NGS) technologies have revolutionized research of rare diseases. This article will first comment on the effectiveness of NGS through the lens of long-tailed economics. We then provide an overview of recent developments and challenges of NGS-based research on rare diseases. As the quality of NGS studies improve and the cost of sequencing decreases, NGS will continue to make a significant impact on the study of rare diseases moving forward.
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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.