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

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

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

Afiliação

Pagin A; Department of Toxicology and Genopathy, Biology Pathology Center, Lille University Hospital, Lille, France.
Devos A; Department of Toxicology and Genopathy, Biology Pathology Center, Lille University Hospital, Lille, France.
Figeac M; Functional and Structural Genomic Platform, Lille, France.
Truant M; Department of Toxicology and Genopathy, Biology Pathology Center, Lille University Hospital, Lille, France.
Willoquaux C; Department of Toxicology and Genopathy, Biology Pathology Center, Lille University Hospital, Lille, France.
Broly F; Department of Toxicology and Genopathy, Biology Pathology Center, Lille University Hospital, Lille, France.
Lalau G; University of Lille 2, Lille, France.

PLoS One ; 11(2): e0149426, 2016.

Article em En | MEDLINE | ID: mdl-26900683

Assuntos

Regulador de Condutância Transmembrana em Fibrose Cística/genética; Fibrose Cística/diagnóstico; Fibrose Cística/genética; Análise Mutacional de DNA/métodos; Testes Genéticos/métodos; Humanos; Análise de Sequência de DNA; Fluxo de Trabalho

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: PLoS One Ano de publicação: 2016 Tipo de documento: Article

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