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, Justin M. Zook, Joshua S. Paul, Vincent H. Ramey, Marc Salit, Heidi L. Rehm, Robert Luke Nussbaum, 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.
Journal of Molecular Diagnostics · Jan 2, 2019Peer-reviewedGenetics