ArticleAmerican journal of ophthalmology2015
High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.
Article in American journal of ophthalmology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03548779 (North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2), which is not on this map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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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.
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- Trial
- The Role of Genetic Testing in Avoiding Diagnostic Delays in Inherited Retinal Disease.Retinal cases & brief reports · 2023Article
- Ophthalmic genetic counselling: emerging trends in practice perspectives in Asia.Journal of community genetics · 2023Article
- Five years' experience of the clinical exome sequencing in a Spanish single center.Scientific reports · 2022Article
- PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.Human mutation · 2021Article
- Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.Scientific reports · 2021Article
- Noncoding mutation inMolecular vision · 2021Article
- Updating the Genetic Landscape of Inherited Retinal Dystrophies.Frontiers in cell and developmental biology · 2021Article
- De Novo Assembly-Based Analysis ofGenes · 2020Article
- An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Expanding the phenotypic spectrum in RDH12-associated retinal disease.Cold Spring Harbor molecular case studies · 2020Article
- Article
- The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.American journal of human genetics · 2018Article
- Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Molecular findings from 537 individuals with inherited retinal disease.Journal of medical genetics · 2016Article
- Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.Annual review of genomics and human genetics · 2016Review
- Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.American journal of human genetics · 2016Article
- Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo assess the diagnostic yield and the practicality of implementing whole exome sequencing within a clinical ophthalmology setting.
designEvaluation of a diagnostic protocol.
methodssetting: Patient participants were enrolled during clinical appointments in a university-based ophthalmic genetics clinic. PATIENT POPULATION: Twenty-six patients with a variety of presumed hereditary retinal dystrophies.
interventionParticipants were offered whole exome sequencing in addition to clinically available sequencing gene panels between July 2012 and January 2013 to determine the molecular etiology of their retinal dystrophy.
main outcome measuresDiagnostic yield and acceptability of whole exome sequencing in patients with retinal disorders.
resultsTwenty-six of 29 eligible patients (∼90%) who were approached opted to undergo molecular testing. Each participant chose whole exome sequencing in addition to, or in lieu of, clinically available sequencing gene panels. Time to obtain informed consent was manageable in the clinical context. Whole exome sequencing successfully identified known pathogenic mutations or suspected deleterious variants in 57.7% of participants. Additionally, 1 participant had 2 autosomal dominant medically actionable incidental findings (unrelated to retinopathy) that were reported to enable the participant to take preventive action and reduce risk for future disease.
conclusionsIn this study, we identified the molecular etiology for more than half of all participants. Additionally, we found that participants were widely accepting of whole exome sequencing and the possibility of being informed about medically actionable incidental findings.
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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.