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Article

Benchmarking of Amplicon-Based Next-Generation Sequencing Panels Combined with Bioinformatics Solutions for Germline BRCA1 and BRCA2 Alteration Detection.

The Journal of molecular diagnostics : JMD - 1 Nov 2018

Vendrell Julie A, Vilquin Paul, Larrieux Marion, Van Goethem Charles, Solassol Jérôme

Abstract excerpt

The recent deployment of next-generation sequencing approaches in routine laboratory analysis has considerably modified the landscape of BRCA1 and BRCA2 germline alteration detection in patients with a high risk of developing breast and/or ovarian cancer. Several commercial multiplex amplicon-based panels and bioinformatics solutions are currently available. In this study, we evaluated the combinations of several...

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Source

Identifiers

PMID: 30055349
DOI: 10.1016/j.jmoldx.2018.06.003

Genes

BRCA1
BRCA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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