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

Advances in next-generation sequencing (NGS) have facilitated parallel analysis of multiple genes enabling the implementation of cost-effective, rapid, and high-throughput methods for the molecular diagnosis of multiple genetic conditions, including the identification of BRCA1 and BRCA2 mutations in high-risk patients for hereditary breast and ovarian cancer. We clinically validated a NGS pipeline designed to replace Sanger sequencing and multiplex ligation-dependent probe amplification analysis and to facilitate highly sensitive and specific detection of sequence and copy number alterations in a single test focusing on a BRCA1/BRCA2 gene analysis panel.

http://jmd.amjpathol.org/article/S1525-1578(16)30066-6/abstract?rss=yes

Source: Journal of Molecular Diagnostics - June 30, 2016 Category: Pathology Authors: Laila C. Schenkel, Jennifer Kerkhof, Alan Stuart, Jack Reilly, Barry Eng, Crystal Woodside, Alexander Levstik, Christopher J. Howlett, Anthony C. Rupar, Joan H.M. Knoll, Peter Ainsworth, John S. Waye, Bekim Sadikovic Tags: Technical Advance Source Type: research