Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.,Genetics in Medicine

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Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2019-Jan-01 , DOI: 10.1038/s41436-018-0016-6
Peter Bauer ₁ , Krishna Kumar Kandaswamy ₁ , Maximilian E R Weiss ₁ , Omid Paknia ₁ , Martin Werber ₁ , Aida M Bertoli-Avella ₁ , Zafer Yüksel ₁ , Malgorzata Bochinska ₁ , Gabriela E Oprea ₁ , Shivendra Kishore ₁ , Volkmar Weckesser ₁ , Ellen Karges ₁ , Arndt Rolfs _{1,

2}

Affiliation

Next-generation sequencing (NGS) is rapidly replacing Sanger sequencing in genetic diagnostics. Sensitivity and specificity of NGS approaches are not well-defined, but can be estimated from applying NGS and Sanger sequencing in parallel. Utilizing this strategy, we aimed at optimizing exome sequencing (ES)-based diagnostics of a clinically diverse patient population.

中文翻译：

开发基于证据的算法，优化临床异质患者群体基于 ES 的诊断的敏感性和特异性。

下一代测序 (NGS) 正在基因诊断中迅速取代 Sanger 测序。NGS 方法的敏感性和特异性没有明确定义，但可以通过并行应用 NGS 和 Sanger 测序来估计。利用这一策略，我们旨在优化基于外显子组测序 (ES) 的临床多样化患者群体的诊断。

更新日期：2018-08-13

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