Trial reportBioMed research international2013
IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.
Trial report in BioMed research international, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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
13 citing papers in PubMed.
- Article
- Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases.International journal of molecular sciences · 2023Review
- Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.Progress in retinal and eye research · 2020Review
- Genetic variants in Forkhead box O1 associated with predisposition to sepsis in a Chinese Han population.BMC infectious diseases · 2019Article
- Higher retinal vessel oxygen saturation: investigating its relationship with macular oedema in retinitis pigmentosa patients.Eye (London, England) · 2018Article
- Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.JAMA ophthalmology · 2018Article
- Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.The Journal of clinical investigation · 2018Article
- High-frequency, low-coverage "false positives" mutations may be true in GS Junior sequencing studies.Scientific reports · 2017Article
- Identifying mutations in Tunisian families with retinal dystrophy.Scientific reports · 2016Article
- Role of RDS and Rhodopsin in Cngb1-Related Retinal Degeneration.Investigative ophthalmology & visual science · 2016Article
- Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.BMC genetics · 2014Article
- Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.Cold Spring Harbor perspectives in medicine · 2014Review
- Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology.Molecular vision · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The molecular diagnosis of retinal dystrophies is difficult because of the very important number of genes implicated and is rarely helped by genotype-phenotype correlations. This prompted us to develop IROme, a custom designed in solution-based targeted exon capture assay (SeqCap EZ Choice library, Roche NimbleGen) for 60 retinitis pigmentosa-linked genes and three candidate genes (942 exons). Pyrosequencing was performed on a Roche 454 GS Junior benchtop high-throughput sequencing platform. In total, 23 patients affected by retinitis pigmentosa were analyzed. Per patient, 39.6 Mb were generated, and 1111 sequence variants were detected on average, at a median coverage of 17-fold. After data filtering and sequence variant prioritization, disease-causing mutations were identified in ABCA4, CNGB1, GUCY2D, PROM1, PRPF8, PRPF31, PRPH2, RHO, RP2, and TULP1 for twelve patients (55%), ten mutations having never been reported previously. Potential mutations were identified in 5 additional patients, and in only 6 patients no molecular diagnosis could be established (26%). In conclusion, targeted exon capture and next-generation sequencing are a valuable and efficient approach to identify disease-causing sequence variants in retinal dystrophies.
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