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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2013
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Article
Online Erişim: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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