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Article

Assessing the Accuracy of Variant Detection in Cost-Effective Gene Panel Testing by Next-Generation Sequencing.

The Journal of molecular diagnostics : JMD - 1 Sept 2018

Fujiki Ryoji, Ikeda Makoto, Yoshida Akiko, Akiko Maeda, Yao Yue, Nishimura Motio, Matsushita Kazuyuki, Ichikawa Tomohiko, Tanaka Tomoaki, Morisaki Hiroko, Morisaki Takayuki, Ohara Osamu

Abstract excerpt

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...

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PMID: 29953964
DOI: 10.1016/j.jmoldx.2018.04.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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