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Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies

BMC Ophthalmology Sep 01, 2017

Wang X, et al. – This study is performed to report a novel approach to enrich the target gene panel by microdroplet PCR. The application of next generation sequencing (NGS) in inherited Retinal dystrophy (IRD) clinical molecular diagnosis provides a powerful approach to investigate the etiology and pathology in patients. It is vital for the clinical laboratory to translate the molecular findings in the context of patient clinical presentations because an accurate interpretation of pathogenic variants is critical for delivering the solid clinical molecular diagnosis to clinicians and patients and improving the standard care of patients.
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