May 31, 2018

A rigorous interlaboratory examination of the need to confirm NGS-detected variants by an orthogonal method in clinical genetic testing

Background: The confirmation of genetic variants identified by next-generation sequencing (NGS) using orthogonal assays (e.g., Sanger sequencing) is standard practice in many laboratories. Published studies have examined this issue, concluding that confirmation of the highest-quality NGS calls may not always be necessary. However, these studies are generally small, omit statistical justification, and explore limited aspects of the underlying data. Defining criteria that separate high accuracy NGS calls that do not benefit from confirmation from those that do remains a critical and pressing issue. Methods: We conducted a rigorous examination of NGS data from two clinical laboratories. Five Genome in a…

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