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A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology  Marco Lucarelli, Luigi Porcaro, Alice Biffignandi, Lucy Costantino,

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Presentation on theme: "A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology  Marco Lucarelli, Luigi Porcaro, Alice Biffignandi, Lucy Costantino,"— Presentation transcript:

1 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 (September 2017) DOI: /j.jmoldx Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 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  , DOI: ( /j.jmoldx ) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

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