Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis

BACKGROUND: Actually, about 2000 sequence variations have been documented in the CFTR gene requiring extensive and multi-step genetic testing in the diagnosis of cystic fibrosis and CFTR-related disorders. We present a two phases study, with validation and performance monitoring, of a single experim...

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Detalles Bibliográficos
Autores principales: Pagin, Adrien, Devos, Aurore, Figeac, Martin, Truant, Maryse, Willoquaux, Christelle, Broly, Franck, Lalau, Guy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4762772/
https://www.ncbi.nlm.nih.gov/pubmed/26900683
http://dx.doi.org/10.1371/journal.pone.0149426

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4762772/
https://www.ncbi.nlm.nih.gov/pubmed/26900683
http://dx.doi.org/10.1371/journal.pone.0149426

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