Article

A Rigorous Interlaboratory Examination of the Need to Confirm NGS-Detected Variants with an Orthogonal Method in Clinical Genetic Testing

2018-05-31

Abstract excerpt

Orthogonal confirmation of NGS-detected germline variants has been standard practice, although published studies have suggested that confirmation of the highest quality calls may not always be necessary. The key question is how laboratories can establish criteria that consistently identify those NGS calls that require confirmation. Most prior studies addressing this question have limitations: These studies are gen...

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Literature Corpus work: 9689f1b1-96f2-54dc-91af-17a13e3ff01e
DOI: 10.1101/335950

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