A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology Marco Lucarelli, Luigi Porcaro, Alice Biffignandi, Lucy Costantino, Valentina Giannone, Luisella Alberti, Sabina Maria Bruno, Carlo Corbetta, Erminio Torresani, Carla Colombo, Manuela Seia The Journal of Molecular Diagnostics Volume 19, Issue 5, Pages 788-800 (September 2017) DOI: 10.1016/j.jmoldx.2017.06.002 Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions
Figure 1 Study workflow of the 188-CF-NGS assay. The validation steps, specimens used, and number of mutations validated at each step, as well as overall, are reported. DBS, dried blood spots. The Journal of Molecular Diagnostics 2017 19, 788-800DOI: (10.1016/j.jmoldx.2017.06.002) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions