Discover Community Create You

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 and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.

PloS one - 1 Jan 2015

Strom Charles M, Rivera Steven, Elzinga Christopher, Angeloni Taraneh, Rosenthal Sun Hee, Goos-Root Dana, Siaw Martin, Platt Jamie, Braastadt Cory, Cheng Linda, Ross David, Sun Weimin

Abstract excerpt

The objective of this study was to design and validate a next-generation sequencing assay (NGS) to detect BRCA1 and BRCA2 mutations. We developed an assay using random shearing of genomic DNA followed by RNA bait tile hybridization and NGS sequencing on both the Illumina MiSeq and Ion Personal Gene Machine (PGM). We determined that the MiSeq Reporter software supplied with the instrument could not detect...

Read the complete abstract on PubMed

Topics

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

Share to Biological Assay
Share to BRCA1 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to BRCA2 Protein

Share to Breast Neoplasms

Share to Genetic Testing

Share to High-Throughput Nucleotide Sequencing

Share to Sensitivity and Specificity

Share to User-Computer Interface

Source

Open in PubMed Open full text

Identifiers

PMID: 26295337
DOI: 10.1371/journal.pone.0136419
PMCID: PMC4546651

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.PMID 26295337Read ↗

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

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

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

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

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.Semantic proximity Read ↗

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

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

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

Establishing reference samples for detection of somatic mutations and germline variants with NGS technologiesSemantic 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 ↗

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