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Limitations of next generation sequencing
This is a report of a young female patient with clinically diagnosed retinitis pigmentosa who underwent genetic testing using an inherited retinal disease panel and whole exome sequencing by next generation sequencing (NGS) technology. This approach did not identify any...
Healthcare costs of early vs late genetic testing
This is a retrospective observational cohort study of the relative healthcare costs incurred by early vs late genetic testing for inherited retinal diseases in a population of patients from the USA. Three hundred and ten patients with a genetically confirmed...
Genetic cause for idiopathic foveal hypoplasia
The authors present a small cohort study of 19 patients with idiopathic foveal hypoplasia diagnosed based on optical coherence tomography (OCT) features. Peripheral blood samples from all 19 patients underwent next-generation sequencing and 33 genes known to be involved in...
