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

Publication date: Available online 26 June 2018Source: The Journal of Molecular DiagnosticsAuthor(s): Megan H. Cleveland, Justin M. Zook, Marc Salit, Peter M. ValloneAbstractThe 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. These materials are useful for understanding the limitations of, and optimizing, targeted sequencing panels and associated bioinformatics pipelines. Example figures are presented to illustrate ways of accessing the performance metrics of targeted sequencing panels and a table of best practices included.

Source: The Journal of Molecular Diagnostics - July 5, 2018 Category: Pathology Source Type: research