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

Author:

Pagin Adrien,Devos Aurore,Figeac Martin,Truant Maryse,Willoquaux Christelle,Broly Franck,Lalau Guy

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference25 articles.

1. The prevalence of cystic fibrosis in the European Union;PM Farrell;J Cyst Fibros,2008

2. Recommendations for the classification of diseases as CFTR-related disorders;C Bombieri;J Cyst Fibros Off J Eur Cyst Fibros Soc,2011

3. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice;C Castellani;J Cyst Fibros Off J Eur Cyst Fibros Soc,2008

4. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders—updated European recommendations;E Dequeker;Eur J Hum Genet Ejhg,2009

5. Cystic Fibrosis Mutation Database [Internet]. [cited 2015 Apr 13]. Available from: http://www.genet.sickkids.on.ca/app

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