%0 Journal Article
%T Assessing the Accuracy of Variant Detection in Cost-Effective Gene Panel Testing by Next-Generation Sequencing
%A Akiko Yoshida
%A Hiroko Morisaki
%A Kazuyuki Matsushita
%A Maeda Akiko
%A Makoto Ikeda
%A Motio Nishimura
%A Osamu Ohara
%A Ryoji Fujiki
%A Takayuki Morisaki
%A Tomoaki Tanaka
%A Tomohiko Ichikawa
%A Yue Yao
%J The Journal of Molecular Diagnostics
%D 2018
%R 10.1016/j.jmoldx.2018.04.004
%X There is significant debate within the diagnostics community regarding the accuracy
of variant identification by next-generation sequencing and the necessity of confirmatory
testing of detected variants. Because the quality threshold to discriminate false
positives depends on the workflow, no regulatory standard regarding this matter has
yet been published. The goal of this study was to empirically determine the threshold
to perform additional Sanger sequencing and to reduce the experimental cost to a practical
level.
%U https://jmd.amjpathol.org/article/S1525-1578(17)30554-8/fulltext