ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers.
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
75 citing papers in PubMed, 109 citations in OpenAlex.
- Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker.JCI insight · 2023Trial
- In Silico identification of a common mobile element insertion in exon 4 of RP1.Scientific reports · 2021Trial
- Diagnostic yield and variant spectrum of whole-exome sequencing in Iranian probands with congenital and early-onset ocular disorders.Molecular genetics and metabolism reports · 2026Article
- Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders.European journal of human genetics : EJHG · 2026Article
- Two-year prospective natural history study of EYS-associated retinitis pigmentosa using adaptive optics: the KEYS study.Scientific reports · 2026Observational
- Genetic Testing in Inherited Retinal Disease: Current Strategies and Future Directions.Journal of personalized medicine · 2026Review
- Multivariable genome-wide analysis elucidates the shared genetic architecture, immunosenescence features, and gut-origin therapeutic targets of ulcerative colitis-associated multisystem inflammation.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity.NPJ genomic medicine · 2026Article
- [Clinical and genetic aspects of inherited retinal dystrophies : Phenotypic and molecular characterization of 1000 IRD patients in a German tertiary referral center].Die Ophthalmologie · 2026Article
- The mutational and clinical spectrum ofFrontiers in genetics · 2026Article
- Copy Number Variation Analysis.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Prime editing for the investigation of aberrant splicing defect associated with a pathogenicMolecular therapy. Nucleic acids · 2025Article
- Exome sequencing identifies a homozygous splice site variant inAnnals of medicine · 2025Article
- Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.Eye (London, England) · 2025Article
- Combined genome and transcriptome analysis identifies molecular signatures of aortic disease in patients with Marfan syndrome.Journal of molecular and cellular cardiology plus · 2025Article
- Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.The British journal of ophthalmology · 2025Article
- Bilateral Sector Macular Dystrophy Associated withJournal of clinical medicine · 2025Article
- Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three NovelBiomedicines · 2025Article
- The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.Acta ophthalmologica · 2025Article
15 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
13 authors at 3 institutions in 1 country.
Funding
Abstract
purposeCurrent sequencing strategies can genetically solve 55-60% of inherited retinal degeneration (IRD) cases, despite recent progress in sequencing. This can partially be attributed to elusive pathogenic variants (PVs) in known IRD genes, including copy-number variations (CNVs), which have been shown as major contributors to unsolved IRD cases.
methodsFive hundred IRD patients were analyzed with targeted next-generation sequencing (NGS). The NGS data were used to detect CNVs with ExomeDepth and gCNV and the results were compared with CNV detection with a single-nucleotide polymorphism (SNP) array. Likely causal CNV predictions were validated by quantitative polymerase chain reaction (qPCR).
resultsLikely disease-causing single-nucleotide variants (SNVs) and small indels were found in 55.6% of subjects. PVs in USH2A (11.6%), RPGR (4%), and EYS (4%) were the most common. Likely causal CNVs were found in an additional 8.8% of patients. Of the three CNV detection methods, gCNV showed the highest accuracy. Approximately 30% of unsolved subjects had a single likely PV in a recessive IRD gene.
conclusionCNV detection using NGS-based algorithms is a reliable method that greatly increases the genetic diagnostic rate of IRDs. Experimentally validating CNVs helps estimate the rate at which IRDs might be solved by a CNV plus a more elusive variant.
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.