Clinical phenotype assessment is very important in mutation analysis for patients with hereditary eye disease / 中华实验眼科杂志

ABSTRACT

Sanger sequencing technology is the most commonly used method for genetic analysis in inherited eye disease in the past few decades on account of its long DNA sequencing read length and high accuracy.However,application of this method is limited in genetically heterogeneous diseases because of the high economic and time cost.Next generation sequencing (NGS) technology is a high-throughput,cost-effective,and highly automated method which has been widely used since 2005.Although NGS is especially suitable for studies on genetically heterogeneous inherited eye disease,overdependence on the technique itself and neglect of the assessment of the phenotype may lead to misjudgment of the testing results and higher economic burden for the patients.So far,the most common method on researches of monogenic inherited eye disease is to combine NGS and Sanger sequencing technique.Precise evaluation of the clinical phenotype of patients is very important,as it is related with selection of detection methods and determination of disease-causing mutations.