Skip to main content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

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

Published

Author(s)

Megan H. Cleveland, Justin M. Zook, Marc L. Salit, Peter M. Vallone

Abstract

The National Institute of Standards and Technology (NIST) 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 (www.genomeinabottle.org). 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 GIAB samples to obtain performance metrics on any targeted sequencing panel of interest, as well as the limitations of the reference materials. Example figures are presented to illustrate ways to assess the performance metrics of targeted sequencing panels
Citation
Journal of Molecular Diagnostics

Keywords

DNA sequencing, next generation sequencing, genomics, reference materials
Created June 26, 2018, Updated July 11, 2018