Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases
Dongheon Surl,
Dongju Won,
Seung-Tae Lee
et al.
Abstract:ImportanceDespite advances in next-generation sequencing (NGS), a significant proportion of patients with inherited retinal disease (IRD) remain undiagnosed after initial genetic testing. Exome sequencing (ES) reanalysis in the clinical setting has been suggested as one method for improving diagnosis of IRD.ObjectiveTo investigate the association of clinician-led reanalysis of ES data, which incorporates updated clinical information and comprehensive bioinformatic analysis, with the diagnostic yield in a cohor… Show more
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