ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 161 papers.
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161 citing papers in PubMed.
- Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker.JCI insight · 2023Trial
- Structure-Based Network Analysis of AlphaFold Structure Predictions Identifies Putative Causative Variants of Inherited Retinal Disease.Investigative ophthalmology & visual science · 2026Article
- Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients.Molecular genetics & genomic medicine · 2026Article
- Two-year prospective natural history study of EYS-associated retinitis pigmentosa using adaptive optics: the KEYS study.Scientific reports · 2026Observational
- A comparative survey of functional evidence use in hearing and vision loss genetics.Communications medicine · 2026Article
- Genetic Testing in Inherited Retinal Disease: Current Strategies and Future Directions.Journal of personalized medicine · 2026Review
- Deep learning detection of retinitis pigmentosa inheritance forms through synthetic data expansion of a rare disease dataset.Scientific reports · 2026Article
- A multistage cost-effective strategy for the molecular diagnosis of unexplained vision loss patients: practice in inherited ocular fundus disease.Molecular genetics and genomics : MGG · 2026Article
- Deep Learning Detection of Retinitis Pigmentosa Inheritance Forms through Synthetic Data Expansion of a Rare Disease Dataset.Research square · 2025Article
- Elucidating photoreceptor gene function with in-vivo CRISPR knock-out perturbation assay.Research square · 2025Article
- Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium.Translational vision science & technology · 2025Review
- Genetic and clinical characterization of suspected retinitis pigmentosa in a cohort of Brazilian patients.Molecular vision · 2025Article
- Application of next-generation sequencing to determine mutations in candidate genes for congenital eye malformations in the Mexican indigenous population.Frontiers in genetics · 2025Article
- A novel homozygous nonsense variant inOphthalmic genetics · 2024Article
- Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.Molecular genetics & genomic medicine · 2024Article
- Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.NPJ genomic medicine · 2024Article
- History of Finding Genes and Mutations Causing Inherited Retinal Diseases.Cold Spring Harbor perspectives in medicine · 2024Review
- Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease.NPJ genomic medicine · 2024Article
- Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases.Current issues in molecular biology · 2024Article
- Screening copy number variations in 35 unsolved inherited retinal disease families.Human genetics · 2024Article
101 more citing papers are in PubMed but not listed here.
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17 authors.
Funding
Abstract
purposeNext-generation sequencing-based methods are being adopted broadly for genetic diagnostic testing, but the performance characteristics of these techniques with regard to test accuracy and reproducibility have not been fully defined.
methodsWe developed a targeted enrichment and next-generation sequencing approach for genetic diagnostic testing of patients with inherited eye disorders, including inherited retinal degenerations, optic atrophy, and glaucoma. In preparation for providing this genetic eye disease (GEDi) test on a CLIA-certified basis, we performed experiments to measure the sensitivity, specificity, and reproducibility, as well as the clinical sensitivity, of the test.
resultsThe GEDi test is highly reproducible and accurate, with sensitivity and specificity of 97.9 and 100%, respectively, for single-nucleotide variant detection. The sensitivity for variant detection was notably better than the 88.3% achieved by whole-exome sequencing using the same metrics, because of better coverage of targeted genes in the GEDi test as compared with a commercially available exome capture set. Prospective testing of 192 patients with inherited retinal degenerations indicated that the clinical sensitivity of the GEDi test is high, with a diagnostic rate of 51%.
conclusionBased on quantified performance metrics, the data suggest that selective targeted enrichment is preferable to whole-exome sequencing for genetic diagnostic testing.
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