Long-Read Nanopore Sequencing Enhances BRCA1/2 Variant Detection Compared with Ion Torrent Analysis.

doi:10.1016/j.jmoldx.2026.06.001

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Article

Long-Read Nanopore Sequencing Enhances BRCA1/2 Variant Detection Compared with Ion Torrent Analysis.

The Journal of molecular diagnostics : JMD - 1 Sept 2026

El Makhzen Nada, El Hejjioui Brahim, ElMakhzen Badreddine, Bouramtane Abdelhamid, Bennis Sanae, Bouguenouch Laila, Abriel Hugues

Abstract excerpt

Accurate detection of BRCA1 and BRCA2 variants is essential for breast cancer diagnosis. However, the large size of these genes poses challenges for comprehensive analysis using short-read sequencing, which is generally limited to coding regions and may miss deep intronic and structural variants. This study evaluated the performance of Oxford Nanopore Technology long-read sequencing (ONT-LRS) for comprehensive...

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Share to BRCA1 Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42320755
DOI: 10.1016/j.jmoldx.2026.06.001

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.