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Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel

机译：377基因定制下一代测序癫痫面板的临床效用

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Epilepsy is one of the most common neurological disorders with about 500 genes thought to be involved across the phenotypic spectrum (Busch et al. 2014; Ran et al. 2014), which includes monogenic, multigenic, epistatic and pleiotropic phenotype manifestations (Busch et al. 2014; Thomas et al. 2014), driving the need for a comprehensive diagnostic test. Next-generation sequencing (NGS) allows for the simultaneous investigation of a large number of genes, making it a very attractive option for a condition as diverse as epilepsy at a low cost compared to traditional Sanger sequencing (Lemke et al. 2012; N,meth et al. 2013). Our 377 gene epilepsy NGS test was developed to include genes known to cause or have published association with epilepsy and seizure-related disorders. Given the scale of information that is generated, the efficacy of an NGS panel depends on a number of factors, including the genes present on the panel, prebioinformatic and postbioinformatic analysis protocols, as well as reporting criteria, prompting the current study, a retrospective analysis of 305 cases tested for the epilepsy panel.
机译：癫痫是最常见的神经系统疾病之一，旨在涉及到表型谱中的约500个基因（Busch等人2014; Ran等人2014），其中包括单一的，多粒，外科表型表现表现（Busch等。2014;托马斯等人2014），驾驶需要进行综合诊断测试。下一代测序（NGS）允许同时调查大量基因，使其在与传统的Sanger测序相比以低成本的癫痫症（Lemke等，2012; N， Meth等人。2013）。我们的377基因癫痫NGS测试是制定的，包括已知或已发表与癫痫和癫痫发作相关疾病的基因。考虑到产生的信息量表，NGS面板的功效取决于许多因素，包括面板上存在的基因，预先溢出，杂志，以及报告标准，提示当前研究，回顾性分析癫痫面板测试305例。

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