GeneticsJournal of Molecular DiagnosticsPeer-reviewed
A Rigorous Interlaboratory Examination of the Need to Confirm NGS-Detected Variants by an Orthogonal Method in Clinical Genetic Testing
Stephen E. Lincoln, Rebecca Truty, Chiao‐Feng Lin…·Matthew S. Lebo
The paper examines the need for orthogonal confirmation of NGS-detected variants in clinical testing and develops criteria to identify false positives with high accuracy.
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