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• W4313372423 abstract "PURPOSE Accurate genotyping of individuals with inherited retinal diseases (IRD) is essential for patient management and identifying suitable candidates for gene therapies. This study evaluated the diagnostic yield of next generation sequencing (NGS) in IRDs. DESIGN Systematic review and meta-analysis. METHODS This systematic review was prospectively registered (CRD42021293619). Ovid MEDLINE and Ovid Embase were searched on 6 June 2022. Clinical studies evaluating the diagnostic yield of NGS in individuals with IRDs were eligible for inclusion. Risk of bias assessment was performed. Studies were pooled using a random...effects inverse variance model. Sources of heterogeneity were explored using stratified analysis, meta-regression, and sensitivity analysis. RESULTS This study included 105 publications from 28 countries. Most studies (90 studies) used targeted gene panels. The diagnostic yield of NGS was 61.3% (95% confidence interval: 57.8–64.7%; 51 studies) in mixed IRD phenotypes, 58.2% (51.6–64.6%; 41 studies) in rod-cone dystrophies, 57.7% (46.8–68.3%; eight studies) in macular and cone/cone-rod dystrophies, and 47.6% (95% CI: 41.0–54.3%; four studies) in familial exudative vitreoretinopathy. For mixed IRD phenotypes, a higher diagnostic yield was achieved pooling studies published between 2018–2022 (64.2% [59.5–68.7%]), studies using exome sequencing (73.5% [58.9–86.1%]), and studies using the American College of Medical Genetics variant interpretation standards (65.6% [60.8–70.4%]). CONCLUSION The current diagnostic yield of NGS in IRDs is between 52–74%. The certainty of the evidence was judged as low or very low. A key limitation of the current evidence is the significant heterogeneity between studies. Adoption of standardized reporting guidelines could improve confidence in future meta-analyses. Accurate genotyping of individuals with inherited retinal diseases (IRD) is essential for patient management and identifying suitable candidates for gene therapies. This study evaluated the diagnostic yield of next generation sequencing (NGS) in IRDs. Systematic review and meta-analysis. This systematic review was prospectively registered (CRD42021293619). Ovid MEDLINE and Ovid Embase were searched on 6 June 2022. Clinical studies evaluating the diagnostic yield of NGS in individuals with IRDs were eligible for inclusion. Risk of bias assessment was performed. Studies were pooled using a random...effects inverse variance model. Sources of heterogeneity were explored using stratified analysis, meta-regression, and sensitivity analysis. This study included 105 publications from 28 countries. Most studies (90 studies) used targeted gene panels. The diagnostic yield of NGS was 61.3% (95% confidence interval: 57.8–64.7%; 51 studies) in mixed IRD phenotypes, 58.2% (51.6–64.6%; 41 studies) in rod-cone dystrophies, 57.7% (46.8–68.3%; eight studies) in macular and cone/cone-rod dystrophies, and 47.6% (95% CI: 41.0–54.3%; four studies) in familial exudative vitreoretinopathy. For mixed IRD phenotypes, a higher diagnostic yield was achieved pooling studies published between 2018–2022 (64.2% [59.5–68.7%]), studies using exome sequencing (73.5% [58.9–86.1%]), and studies using the American College of Medical Genetics variant interpretation standards (65.6% [60.8–70.4%]). The current diagnostic yield of NGS in IRDs is between 52–74%. The certainty of the evidence was judged as low or very low. A key limitation of the current evidence is the significant heterogeneity between studies. Adoption of standardized reporting guidelines could improve confidence in future meta-analyses." @default.
• W4313372423 created "2023-01-06" @default.
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• W4313372423 date "2023-05-01" @default.
• W4313372423 modified "2023-10-18" @default.
• W4313372423 title "The Diagnostic Yield of Next Generation Sequencing in Inherited Retinal Diseases: A Systematic Review and Meta-analysis" @default.
• W4313372423 cites W1190130989 @default.
• W4313372423 cites W1526371295 @default.
• W4313372423 cites W1571743532 @default.
• W4313372423 cites W1619043470 @default.
• W4313372423 cites W1976867041 @default.
• W4313372423 cites W1977823409 @default.
• W4313372423 cites W1980311612 @default.
• W4313372423 cites W1980686880 @default.
• W4313372423 cites W1985282719 @default.
• W4313372423 cites W1986492152 @default.
• W4313372423 cites W1987205887 @default.
• W4313372423 cites W1992932528 @default.
• W4313372423 cites W2003873813 @default.
• W4313372423 cites W2005439134 @default.
• W4313372423 cites W2030525509 @default.
• W4313372423 cites W2050911021 @default.
• W4313372423 cites W2051978340 @default.
• W4313372423 cites W2054230310 @default.
• W4313372423 cites W2059403645 @default.
• W4313372423 cites W2089192839 @default.
• W4313372423 cites W2094738421 @default.
• W4313372423 cites W2103376319 @default.
• W4313372423 cites W2120036709 @default.
• W4313372423 cites W2136145129 @default.
• W4313372423 cites W2136941319 @default.
• W4313372423 cites W2139168999 @default.
• W4313372423 cites W2144430639 @default.
• W4313372423 cites W2144570461 @default.
• W4313372423 cites W2148361291 @default.
• W4313372423 cites W2152652629 @default.
• W4313372423 cites W2161137172 @default.
• W4313372423 cites W2165010366 @default.
• W4313372423 cites W2168194443 @default.
• W4313372423 cites W2170750428 @default.
• W4313372423 cites W2190055525 @default.
• W4313372423 cites W2238860309 @default.
• W4313372423 cites W2253755643 @default.
• W4313372423 cites W2270424748 @default.
• W4313372423 cites W2282010902 @default.
• W4313372423 cites W2297749042 @default.
• W4313372423 cites W2322629739 @default.
• W4313372423 cites W2368623011 @default.
• W4313372423 cites W2381926744 @default.
• W4313372423 cites W2403554300 @default.
• W4313372423 cites W2417616718 @default.
• W4313372423 cites W2418683802 @default.
• W4313372423 cites W2463933158 @default.
• W4313372423 cites W2507754429 @default.
• W4313372423 cites W2520206689 @default.
• W4313372423 cites W2558659016 @default.
• W4313372423 cites W2560617823 @default.
• W4313372423 cites W2561618432 @default.
• W4313372423 cites W2564368426 @default.
• W4313372423 cites W2567760770 @default.
• W4313372423 cites W2585468109 @default.
• W4313372423 cites W2590782456 @default.
• W4313372423 cites W2597592473 @default.
• W4313372423 cites W2618540746 @default.
• W4313372423 cites W2620518508 @default.
• W4313372423 cites W2761041714 @default.
• W4313372423 cites W2762174917 @default.
• W4313372423 cites W2765086853 @default.
• W4313372423 cites W2765124059 @default.
• W4313372423 cites W2765290619 @default.
• W4313372423 cites W2765392324 @default.
• W4313372423 cites W2770401218 @default.
• W4313372423 cites W2799972028 @default.
• W4313372423 cites W2800515343 @default.
• W4313372423 cites W2804126079 @default.
• W4313372423 cites W2805616173 @default.
• W4313372423 cites W2810233684 @default.
• W4313372423 cites W2883346228 @default.
• W4313372423 cites W2883352634 @default.
• W4313372423 cites W2895308528 @default.
• W4313372423 cites W2902350019 @default.
• W4313372423 cites W2910444500 @default.
• W4313372423 cites W2922534626 @default.
• W4313372423 cites W2922545782 @default.
• W4313372423 cites W2922652434 @default.
• W4313372423 cites W2942553675 @default.
• W4313372423 cites W2945425160 @default.
• W4313372423 cites W2949583421 @default.
• W4313372423 cites W2950327400 @default.
• W4313372423 cites W2954789420 @default.
• W4313372423 cites W2970470758 @default.
• W4313372423 cites W2980712121 @default.
• W4313372423 cites W2985972790 @default.

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