Abstract
Next-generation sequencing (NGS) technologies represent powerful tools capable of massive parallel sequencing of DNA. Their application has revolutionized characterization of genomic aberrations responsible for initiation and maintenance of cancers, resulting in a high discovery rate of therapeutic and prognostic markers. In a clinical molecular diagnostic laboratory, the high sequencing capacities of NGS technologies are well suited for routine screening of increasing number of markers using low inputs of DNA in high sample volumes. However, implementation of these technologies in the clinical environment needs thorough validation of their workflow suitability, their capability to detect a variety of genomic aberrations, and their efficiency in comparison to other orthogonal sequencing platforms being routinely used. Here, using a targeted NGS panel to screen for mutational hot spots in 46 cancer-related genes as an example, we have discussed various parameters which need to be established for validation and implementation of the NGS assays. We have highlighted various assay performance metrics which need to be established toward complete validation of the NGS platform before implementation. The criteria for filtering, annotating, and clinical reporting of variants are also discussed.
Published Version
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