ReviewNature reviews. Genetics2013
Rare-disease genetics in the era of next-generation sequencing: discovery to translation.
Review in Nature reviews. Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 404 papers, 5 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
404 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Genetically guided precision medicine clinical decision support tools: a systematic review.Journal of the American Medical Informatics Association : JAMIA · 2024Pooled it
- Children with a rare congenital genetic disorder: a systematic review of parent experiences.Orphanet journal of rare diseases · 2022Pooled it
- Recombinant Human Adenovirus-Medicina (Kaunas, Lithuania) · 2021Pooled it
- Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature.Orphanet journal of rare diseases · 2020Pooled it
- Differential methylation as a diagnostic biomarker of rare renal diseases: a systematic review.BMC nephrology · 2019Pooled it
- Inborn Errors of Metabolism: Pathophysiological Insights, Diagnostic Advances, and Evolving Treatment Paradigms.Annals of African medicine · 2026Review
- Revisiting retinal and macular degeneration in the genomics era.Nature reviews. Genetics · 2026Review
- Variable Expressiveness of a Novel PathogenicDiseases (Basel, Switzerland) · 2026Article
- Reframing Patient and Parental Experience in Pediatric Healthcare: Medical Gaslighting as a Diagnostic Safety Vulnerability.Children (Basel, Switzerland) · 2026Review
- The future of pediatric gene therapy: CRISPR-Cas9, AI, and personalized medicine.Pediatric research · 2026Review
- Epidemiological, clinical, and molecular studies on nail disorders in the human population of Punjab, Pakistan.Molecular biology reports · 2026Article
- Historical Perspectives, Classification and Diagnostic Approaches of Inborn Errors of Metabolism: A Systematic Review and Meta-Analysis.Metabolites · 2026Review
- Computational modelling of cell identity.The Biochemical journal · 2026Review
- Precision Medicine Through Network Language: Integrating Clinical Insight and Data Expertise.Genes · 2026Review
- Preimplantation genetic testing-M for pathogenic variant in CTC1 gene causing cerebroretinal microangiopathy.Journal of assisted reproduction and genetics · 2026Article
- The landscape of 605 genetically confirmed distinct rare diseases in a single center in Mexico (2005-2025).Orphanet journal of rare diseases · 2026Article
- Novel biallelic DNHD1 variants associated with male infertility with severe MMAF phenotype.Asian journal of andrology · 2026Article
- From system building to global engagement: Current significance of and future directions for rare disease research in China.Intractable & rare diseases research · 2026Article
- Living with adrenoleukodystrophy: adult patient and caregiver perspectives.Orphanet journal of rare diseases · 2026Article
- Privacy-by-Design with Federated Learning will drive future Rare Disease Research.Journal of neuromuscular diseases · 2026Review
344 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
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Work over the past 25 years has resulted in the identification of genes responsible for ~50% of the estimated 7,000 rare monogenic diseases, and it is predicted that most of the remaining disease-causing genes will be identified by the year 2020, and probably sooner. This marked acceleration is the result of dramatic improvements in DNA-sequencing technologies and the associated analyses. We examine the rapid maturation of rare-disease genetic analysis and successful strategies for gene identification. We highlight the impact of discovering rare-disease-causing genes, from clinical diagnostics to insights gained into biological mechanisms and common diseases. Last, we explore the increasing therapeutic opportunities and challenges that the resulting expansion of the 'atlas' of human genetic pathology will bring.
Indexed as
Identifiers
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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.