Article
Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2019
Bauer Peter, Kandaswamy Krishna Kumar, Weiss Maximilian E R, Paknia Omid, Werber Martin, Bertoli-Avella Aida M, Yüksel Zafer, Bochinska Malgorzata, Oprea Gabriela E, Kishore Shivendra, Weckesser Volkmar, Karges Ellen, Rolfs Arndt
Abstract excerpt
PURPOSE: 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. METHODS: Consecutive DNA samples from...
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