Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

Next-generation sequencing (NGS) is changing genetic diagnosis due to its huge sequencing capacity and cost-effectiveness. The aim of this study was to develop an NGS-based workflow for routine diagnostics for hereditary breast and ovarian cancer syndrome (HBOCS), to improve genetic testing for BRCA...

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Main Authors: Feliubadaló, Lídia, Lopez-Doriga, Adriana, Castellsagué, Ester, del Valle, Jesús, Menéndez, Mireia, Tornero, Eva, Montes, Eva, Cuesta, Raquel, Gómez, Carolina, Campos, Olga, Pineda, Marta, González, Sara, Moreno, Victor, Brunet, Joan, Blanco, Ignacio, Serra, Eduard, Capellá, Gabriel, Lázaro, Conxi
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2013
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3722680/
https://ncbi.nlm.nih.gov/pubmed/23249957
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.270
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