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Article

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.

The Journal of molecular diagnostics : JMD - 1 Jul 2017

Paulo Paula, Pinto Pedro, Peixoto Ana, Santos Catarina, Pinto Carla, Rocha Patrícia, Veiga Isabel, Soares Gabriela, Machado Catarina, Ramos Fabiana, Teixeira Manuel R

Abstract excerpt

Despite the growing knowledge of the genetic background behind the cancers that occur in a context of hereditary predisposition, personal or family cancer history may not be clear enough to support directional gene testing. Defined targeted next-generation sequencing gene panels allow identification of the causative disease mutations of multigene syndromes and differential diagnosis for syndromes with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 28529006
DOI: 10.1016/j.jmoldx.2017.05.001

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