Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform.

The Journal of molecular diagnostics : JMD - 1 Nov 2012

Chan Maurice, Ji Shen Mo, Yeo Zhen Xuan, Gan Linda, Yap Eric, Yap Yoon Sim, Ng Raymond, Tan Puay Hoon, Ho Gay Hui, Ang Peter, Lee Ann Siew Gek

Abstract excerpt

In a clinical setting, next-generation sequencing (NGS) approaches for the enrichment and resequencing of DNA targets may have limitations in throughput, cost, or accuracy. We evaluated an NGS workflow for targeted DNA sequencing for mutation detection. Targeted sequence data of the BRCA1 and BRCA2 genes, generated using a PCR-based, multiplexed NGS approach using the SOLiD 4 (n = 24) and Ion Torrent PGM (n = 20)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to BRCA2 Protein
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to BRCA1 gene

Share to BRCA2 gene

Share to Genes, BRCA2

Share to High-Throughput Nucleotide Sequencing

Share to Mutation

Share to Sensitivity and Specificity

Source

Identifiers

PMID: 22921312
DOI: 10.1016/j.jmoldx.2012.06.003

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform.PMID 22921312Read ↗

Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing.Semantic proximity Read ↗

Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.Semantic proximity Read ↗

Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.Semantic proximity Read ↗

Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants.Semantic proximity Read ↗

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

Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic setting.Semantic proximity Read ↗

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

Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples.Semantic proximity Read ↗

Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.Semantic proximity Read ↗

Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing.Semantic proximity Read ↗

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

Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.