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Article

Next-Generation Sequencing-Based Detection of Germline Copy Number Variations in BRCA1/BRCA2: Validation of a One-Step Diagnostic Workflow.

The Journal of molecular diagnostics : JMD - 1 Nov 2017

Schmidt Ane Y, Hansen Thomas V O, Ahlborn Lise B, Jønson Lars, Yde Christina W, Nielsen Finn C

Abstract excerpt

Genetic testing of BRCA1/2 includes screening for single nucleotide variants and small insertions/deletions and for larger copy number variations (CNVs), primarily by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). With the advent of next-generation sequencing (NGS), it has become feasible to provide CNV information and sequence data using a single platform. We report the use of NGS...

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Source

Identifiers

PMID: 28822785
DOI: 10.1016/j.jmoldx.2017.07.003

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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