Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Genomic Reference Materials for Clinical Application



Justin M. Zook, Marc L. Salit


Reference Materials are well-characterized, homogeneous, and stable samples that can be used to understand measurement performance. The Genome in a Bottle Consortium is developing whole human genome DNA Reference Materials from large batches of DNA extracted from cell lines to support clinical translation of whole human genome sequencing. This DNA will be characterized using multiple sequencing and bioinformatics methods for SNPs, indels, structural variants, and haplotype phasing across the whole genome. Characterization of the Reference Material will be done with methods being developed by The Consortium to integrate information from multiple datasets to form highly confident genotype calls. These highly confident genotype calls can then be used by clinical and research laboratories to understand and optimize performance of library preparation, sequencing, and bioinformatics methods for genome sequencing, and can be used by accreditation and regulatory bodies to evaluate performance. Because the Reference Materials are homogeneous and stable, they will be able to be used to assess and compare sequencing performance with different methods over time, even as sequencing technologies and bioinformatics methods rapidly improve.
Clinical Genomics
Publisher Info
Elsevier, Waltham, MA


Reference Materials, whole genome sequencing, DNA sequencing, bioinformatics, homogeneity, stability, Next Generation Sequencing, SRM


Zook, J. and Salit, M. (2014), Genomic Reference Materials for Clinical Application, Clinical Genomics, Elsevier, Waltham, MA, [online], (Accessed May 22, 2024)


If you have any questions about this publication or are having problems accessing it, please contact

Created November 21, 2014, Updated November 10, 2018