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Genomic Measurements

Genomic Measurement Tools
Credit: NIH/NCI

NIST partners with industry, academia, and government institutions to develop reference materials and test assays that advance many types of revolutionary genomic measurement technologies such as next generation sequencing, digital PCR, and flow cytometry. 

We develop standards, methods, tools and technology to advance the reliability of genomic measurements for use in biotechnology including genome editing, human genome sequencing and bioinformatics, cancer genomics, and metagenomics. For example, NIST scientists led the development of the world's first and only whole genome reference materials, authoritatively characterized by the NIST-led Genome in a Bottle Consortium; these human genomes provide laboratories with the capability to accurately “map” DNA for genetic testing, benchmark sequencing technologies and bioinformatics, and develop new medical diagnostics and future customized drug therapies. The NIST-led Genome Editing Consortium aims to address the measurements and standards needed to increase confidence and lower the risk of utilizing genome editing technologies in research and commercial products. NIST's cancer biomarker reference materials help researchers and clinicians establish analytical validation of their measurement processes.

Current Activities and Products

  • Genome Editing Consortium – measurement solutions and standards to support innovation and products in the genome editing technology space
  • Cancer Biomarker Reference Materials
    • SRM 2373 – Genomic DNA Standards for HER2 Measurements
    • RM 8366  – Copy Number Standards for EGFR and MET
    • Circulating Cell Free DNA Standards – Developing reference material that contains normal and allelic DNA to measure single nucleotide variations, fusions, and epigenetic markers
    • Total RNA Cancer Reference Samples – Set of total RNA material from NCI/EDRN that can be used to benchmark miRNA datasets for biomarker discovery 
  • Genome in a Bottle –  Seven authoritatively characterized human genomes used to benchmark sequencing and bioinformatic analysis pipelines
  • Microbial Genomic Reference Material (RM 8375) - vials of genomic DNA from four different bacterial strains, ranging in genome size and GC content to best challenge DNA sequencing technologies
  • ERCC Standard Reference Material  
Created February 23, 2015, Updated March 11, 2020