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Article

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

European journal of human genetics : EJHG - 1 Aug 2013

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

Abstract excerpt

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 BRCA1 and BRCA2. A NGS-based workflow was designed using BRCA MASTR kit amplicon libraries followed by GS Junior...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23249957
DOI: 10.1038/ejhg.2012.270
PMCID: PMC3722680

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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