ReviewTransactions of the American Ophthalmological Society2003
Finding and interpreting genetic variations that are important to ophthalmologists.
Review in Transactions of the American Ophthalmological Society, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 58 citations in OpenAlex.
- History of Finding Genes and Mutations Causing Inherited Retinal Diseases.Cold Spring Harbor perspectives in medicine · 2024Review
- A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.Ophthalmology · 2024Article
- Article
- Patient derived stem cells for discovery and validation of novel pathogenic variants in inherited retinal disease.Progress in retinal and eye research · 2021Review
- Using Molecular Diagnostics for Inherited Retinal Dystrophies: The 6 "I"s That Are Necessary to Diagnose 2 Eyes Genetically.Ophthalmology science · 2021Article
- The F220C and F45L rhodopsin mutations identified in retinitis pigmentosa patients do not cause pathology in mice.Scientific reports · 2020Article
- Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging.The British journal of ophthalmology · 2018Article
- The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.Progress in retinal and eye research · 2018Review
- The genetic profile of Leber congenital amaurosis in an Australian cohort.Molecular genetics & genomic medicine · 2017Article
- Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.Ophthalmology · 2017Article
- A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.Genetic testing and molecular biomarkers · 2017Article
- Improvement in vision: a new goal for treatment of hereditary retinal degenerations.Expert opinion on orphan drugs · 2015Article
- Article
- Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.Molecular vision · 2013Article
- Assessment of hereditary retinal degeneration in the English springer spaniel dog and disease relationship to an RPGRIP1 mutation.Stem cells international · 2012Article
- Genetic diagnostic methods for inherited eye diseases.Middle East African journal of ophthalmology · 2011Article
- Engineered zinc finger nuclease-mediated homologous recombination of the human rhodopsin gene.Investigative ophthalmology & visual science · 2010Article
- Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies.Molecular genetics and genomics : MGG · 2010Article
- From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology.American journal of ophthalmology · 2010Article
- Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo explore two approaches for making the human genome more accessible and useful to practicing ophthalmologists.
methodsDNA samples were obtained from patients with inherited eye diseases, and these samples were screened for sequence variations in known disease genes with a combination of single-strand conformational polymorphism analysis and automated DNA sequencing. Data from this screening were then used to evaluate strategies for productively narrowing the sample space as well as for estimating the pathogenic potential of variations that were discovered in individual patients. For the latter purpose, a universal nomenclature for pathogenic potential was proposed based upon the segregation of disease alleles and the evolutionary conservation of specific residues as reflected by a substitution matrix known as blosum 62.
resultsSequence variations were found to be unevenly distributed among disease-associated genes, such that screening strategies could be refined to discover more than 50% of clinically important sequence variations with only 10% of the effort. The use of the blosum 62 matrix was more statistically powerful than our previous method of estimating pathogenic probability.
conclusionsThe size of the human genome requires that clinical questions be very carefully focused if they are to be meaningfully answered in a reasonable amount of time and with a reasonable amount of resources. By examining the behavior of known disease genes, one can design strategies for significantly focusing the sample space and for more effectively interpreting the variations that are found.
Indexed as
Identifiers
14971589PMC1359000W1762501024What 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.