ArticleNPJ genomic medicine2022
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.
Article in NPJ genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 21 citations in OpenAlex.
- Blue cone monochromacy with parafoveal hyperautofluorescent ring caused by a novel OPN1LW p.Ile109Asn variant.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Genetic Architecture of Myopia and Its Implications for Risk Stratification and Prognosis.Diagnostics (Basel, Switzerland) · 2026Review
- Gene therapy rescues cone function in an all-cone retina mouse model with the most common cone opsin C203R missense mutation.PloS one · 2026Article
- Review
- IMI-Myopia Genetics Report.Investigative ophthalmology & visual science · 2025Review
- Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.Scientific reports · 2025Article
- Genome-wide profiling of highly similar paralogous genes using HiFi sequencing.Nature communications · 2025Article
- Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.Investigative ophthalmology & visual science · 2024Article
- Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.NPJ genomic medicine · 2024Article
- Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.NPJ genomic medicine · 2024Article
- Genome sequencing as a generic diagnostic strategy for rare disease.Genome medicine · 2024Article
- Characterisation of a LINE-1 Insertion in theHuman mutation · 2024Article
- The application of long-read sequencing in clinical settings.Human genomics · 2023Review
- Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?Genes · 2023Article
- Blue cone monochromacy and gene therapy.Vision research · 2023Review
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pathogenic variants in the OPN1LW/OPN1MW gene cluster are causal for a range of mild to severe visual impairments with color deficiencies. The widely utilized short-read next-generation sequencing (NGS) is inappropriate for the analysis of the OPN1LW/OPN1MW gene cluster and many patients with pathogenic variants stay underdiagnosed. A diagnostic genetic assay was developed for the OPN1LW/OPN1MW gene cluster, consisting of copy number analysis via multiplex ligation-dependent probe amplification and sequence analysis via long-read circular consensus sequencing. Performance was determined on 50 clinical samples referred for genetic confirmation of the clinical diagnosis (n = 43) or carrier status analysis (n = 7). A broad range of pathogenic haplotypes were detected, including deletions, hybrid genes, single variants and combinations of variants. The developed genetic assay for the OPN1LW/OPN1MW gene cluster is a diagnostic test that can detect both structural and nucleotide variants with a straightforward analysis, improving diagnostic care of patients with visual impairment.
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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.