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Article

Next Generation Sequencing is a Reliable Tool for Detecting BRCA1/2 Mutations, Including Large Genomic Rearrangements.

Clinical laboratory - 1 Feb 2022

Lee Jae Hee, Ryoo Nam-Hee, Ha Jung-Sook, Park Sunggyun, Kim Kyoung Bo, Kang Sun Hee, Kim Do-Hoon

Abstract excerpt

BACKGROUND: Next-generation sequencing (NGS) has been implemented as a rapid and cost-effective BRCA1/2 test strategy. The Oncomine™ BRCA Research Assay is an NGS-based tool for simultaneous detection of small-scale mutations and large genomic rearrangements (LGRs). We evaluated this NGS assay using different versions of Ion Reporter™ (IR) software. METHODS: A total of 258 patients with breast, ovarian, primary...

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Identifiers

PMID: 35142179
DOI: 10.7754/Clin.Lab.2021.210609

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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