ArticleJournal of medical genetics2018
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.
Article in Journal of medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 67 citations in OpenAlex.
- Genetic Testing in Inherited Retinal Disease: Current Strategies and Future Directions.Journal of personalized medicine · 2026Review
- From Genetic Diagnosis to Therapeutic Implementation in Retinal Diseases: Translational Advances and Persistent Bottlenecks.Biomedicines · 2026Review
- 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
- A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.NPJ genomic medicine · 2025Article
- Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data-Based Read-Depth Approach.Molecular genetics & genomic medicine · 2024Article
- Novel and Recurrent Copy Number Variants inInternational journal of molecular sciences · 2024Article
- Screening copy number variations in 35 unsolved inherited retinal disease families.Human genetics · 2024Article
- EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.Journal of medical genetics · 2023Article
- Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.Korean journal of ophthalmology : KJO · 2023Article
- ifCNV: A novel isolation-forest-based package to detect copy-number variations from various targeted NGS datasets.Molecular therapy. Nucleic acids · 2022Article
- Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis.Orphanet journal of rare diseases · 2022Article
- Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing.Journal of medical genetics · 2022Article
- Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.Scientific reports · 2022Article
- CRB1-associated retinal dystrophy presenting as self-resolving opsoclonus and posterior uveitis.American journal of ophthalmology case reports · 2022Article
- Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations.Investigative ophthalmology & visual science · 2022Article
- Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.Journal of medical genetics · 2022Article
- Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.International journal of molecular sciences · 2022Article
- A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes.Cold Spring Harbor molecular case studies · 2022Article
- Inherited Retinal Diseases Due toInternational journal of molecular sciences · 2021Review
- Whole-Gene Deletions ofGenes · 2021Article
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundDiagnostic use of gene panel next-generation sequencing (NGS) techniques is commonplace for individuals with inherited retinal dystrophies (IRDs), a highly genetically heterogeneous group of disorders. However, these techniques have often failed to capture the complete spectrum of genomic variation causing IRD, including CNVs. This study assessed the applicability of introducing CNV surveillance into first-tier diagnostic gene panel NGS services for IRD.
methodsThree read-depth algorithms were applied to gene panel NGS data sets for 550 referred individuals, and informatics strategies used for quality assurance and CNV filtering. CNV events were confirmed and reported to referring clinicians through an accredited diagnostic laboratory.
resultsWe confirmed the presence of 33 deletions and 11 duplications, determining these findings to contribute to the confirmed or provisional molecular diagnosis of IRD for 25 individuals. We show that at least 7% of individuals referred for diagnostic testing for IRD have a CNV within genes relevant to their clinical diagnosis, and determined a positive predictive value of 79% for the employed CNV filtering techniques.
conclusionIncorporation of CNV analysis increases diagnostic yield of gene panel NGS diagnostic tests for IRD, increases clarity in diagnostic reporting and expands the spectrum of known disease-causing mutations.
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