Determining Performance Metrics for Targeted Next-Generation Sequencing Panels Using Reference Materials

The National Institute of Standards and Technology has developed reference materials for five human genomes. DNA aliquots are available for purchase and the data, analyses, and high-confidence small variant and homozygous reference calls are freely available on the web. These reference materials are useful for evaluating whole-genome sequencing methods and can also be used to benchmark targeted sequencing panels, which are commonly used in clinical settings. This paper describes how to use the Genome in a Bottle samples to obtain performance metrics on any germline-targeted sequencing panel of interest, as well as the limitations of the reference materials.

Source: Journal of Molecular Diagnostics - June 26, 2018 Category: Pathology Authors: Megan H. Cleveland, Justin M. Zook, Marc Salit, Peter M. Vallone Tags: Regular Article Source Type: research