Lüsebrink Jessica, Pieper Monika, Tillmann Ramona-Liza, Brockmann Michael, Schildgen Oliver, Schildgen Verena
Kliniken der Stadt Köln gGmbH, Klinikum der Privaten Universität Witten/Herdecke mit Sitz in Köln, Institut für Pathologie, Ostmerheimer Str. 200, D-51109 Köln/Cologne, Germany.
Data Brief. 2018 May 4;18:1962-1966. doi: 10.1016/j.dib.2018.04.114. eCollection 2018 Jun.
This article presents additional next generation data from our pre-clinical validation study. In total 121 samples (clinical specimen and interlaboratory test samples) were tested successfully with next generation sequencing. 38 different mutations in six different genes were detected. Next to the detection of different mutations, the reproducibility of the NGS test was analyzed. Three samples were analyzed five times and the results were compared. Several mutations classified as non-pathogenic so far, have been detected repeatedly.
本文展示了我们临床前验证研究的更多下一代数据。总共121个样本（临床标本和实验室间测试样本）通过下一代测序成功进行了检测。在六个不同基因中检测到38种不同的突变。除了检测不同的突变外，还分析了NGS测试的可重复性。对三个样本进行了五次分析并比较了结果。迄今被归类为非致病性的几种突变已被重复检测到。
