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

Oncotarget - 23 May 2017

Shin Saeam, Kim Yoonjung, Chul Oh Seoung, Yu Nae, Lee Seung-Tae, Rak Choi Jong, Lee Kyung-A

Abstract excerpt

In this study, we validated the analytical performance of BRCA1/2 sequencing using Ion Torrent's new bench-top sequencer with amplicon panel with optimized bioinformatics pipelines. Using 43 samples that were previously validated by Illumina's MiSeq platform and/or by Sanger sequencing/multiplex ligation-dependent probe amplification, we amplified the target with the Oncomine™ BRCA Research Assay and sequenced on...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

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Share to Hereditary Breast and Ovarian Cancer Syndrome

Share to High-Throughput Nucleotide Sequencing

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Source

Open in PubMed Open full text

Identifiers

PMID: 28422718
DOI: 10.18632/oncotarget.16799
PMCID: PMC5471017

Genes

BRCA1
BRCA2

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