Clinical genetic sequencing is frequently utilized to diagnose individuals with neurodevelopmental disorders (NDDs). Here we perform a meta‐analysis and systematic review of the success rate (diagnostic yield) of clinical sequencing through next‐generation sequencing (NGS) across NDDs. We compare the genetic testing yield across NDD subtypes and sequencing technology.

中文翻译：

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癫痫、自闭症谱系障碍和智力障碍的临床测序产量：系统评价和荟萃分析

临床基因测序经常用于诊断患有神经发育障碍 (NDD) 的个体。在这里，我们通过跨 NDD 的下一代测序（NGS）对临床测序的成功率（诊断率）进行了荟萃分析和系统评价。我们比较了 NDD 亚型和测序技术的基因检测产量。