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

Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic setting.

Human mutation - 1 Apr 2013

Costa José Luis, Sousa Sónia, Justino Ana, Kay Teresa, Fernandes Susana, Cirnes Luis, Schmitt Fernando, Machado José Carlos

Abstract excerpt

The introduction of the benchtop massive parallel sequencers made it possible for the majority of clinical diagnostic laboratories to gain access to this fast evolving technology. In this study, using the Ion Torrent Personal Genome Machine, we present a strategy for the molecular diagnosis of hereditary breast and ovarian cancer and respective analytical validation. The methodology relies on a multiplex PCR...

Read the complete abstract on PubMed

Topics

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

Share to Breast Neoplasms
Share to Genes, BRCA1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, BRCA2

Share to Genetic Testing

Share to High-Throughput Nucleotide Sequencing

Share to Ovarian Neoplasms

Share to Reproducibility of Results

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 23315985
DOI: 10.1002/humu.22272

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

Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic setting.PMID 23315985Read ↗

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 ↗

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

BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report.Semantic proximity Read ↗

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

Multiple Mutation Detection for Risk Assessment in Patients with Breast Cancer by Using Next-Generation Sequencing.Semantic proximity Read ↗

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

Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.Semantic proximity Read ↗

Rapid detection of genetic mutations in individual breast cancer patients by next-generation DNA sequencing.Semantic proximity Read ↗

Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.Semantic proximity Read ↗

Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge.Semantic proximity Read ↗

Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing.Semantic proximity Read ↗

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