Author(s): Yüksel, Zafer, MD, Rolfs, Prof. Arndt, MD, Bertoli-Avella, Aida M., MD, Kandaswamy, Krishna Kumar, PhD, Bauer, Dr. Peter, MD, Weiss, Maximilian E. R., Werber, Martin, Oprea, Gabriela-Elena, PhD, Paknia, Omid, PhD, Kishore, Shivendra, PhD, Bochinska, Malgorzata, Weckesser, Volkmar, Dr, Karges, Ellen, Ms
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.
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.
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