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Genomics

Overview

NIST develops standards, methods, tools, and technology to advance the reliability of genomic measurements for use in biotechnology including genome editing, human genome sequencing, cancer genomics, and bioinformatics.

NIST's programs in genomics are supported by our deep expertise in measurement science, molecular biology, cancer biology, and bioinformatics. 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.

Key Accomplishments

  • The NIST Genome Editing Consortium Lexicon Working Group has developed a standard genome editing lexicon, with 42 defined terms.  This lexicon was developed to provide a unified reference set of terms and technical definitions that standardizes their use and meaning, helping the biotechnology community have productive communications. 
  • NIST’s human genome reference material, the first of its kind in the world, generated data that is accurate enough to be used as a benchmarking tool for medical and research labs. The U.S. Food and Drug Administration used this resource to approve one of the first commercially available next-generation DNA sequencers for clinical use. 
  • NIST now offers four additional human genome reference materials to help test labs assess their ability to measure genetic links within families, and compare and contrast genes from people with different lineages. These additional materials increase the confidence of DNA sequencing labs in reporting results, improving genetic tests used for disease risk prediction, diagnosis, and progression tracking. These reference materials also give companies reliable data to guide innovation in hardware, software and clinical research.
  • GIAB developed the first benchmark of large structural changes that occur in the human genome, which will enable clinical translation and technology development for detection of diseases associated with these difficult-to-detect changes; GIAB benchmarks helped demonstrate the performance of a new nanopore-based technologycollaboration with PacBio to benchmark performance of a new highly accurate long DNA sequencing technology. NIST and GIAB continue to use new technologies to shed light on accuracy of more and more challenging DNA sequences.
  • Researchers from NIST patented the first short tandem repeat DNA method for authenticating the mouse cell lines used for genetic research. The method enables better use of taxpayers’ investment in science by helping to provide assurance that cell lines are as labelled.
  • NIST researchers in the cancer biomarker team used human cancer cell lines for copy number measurements and to develop reference materials of the genes for ERBB2 (HER2), EGFR, and MET and characterized the materials using an interlaboratory testing program.
  • A NIST-led consortium of more than 100 organizations from the public, private and academic sectors created the first-ever reference material that is used to produce spike-in controls for RNA measurements. The reference material helps labs check the technical performance of their equipment, giving them confidence that they have reliable, reproducible measurements of the activity of genes, which influence our health and can be manipulated in other organisms to make commercial products. The reference material is used for product and method development, and quality control.      

Projects and Programs

Temporal Computing

Ongoing
The human brain does some types of information processing, like speech recognition, image recognition, or video processing, much more efficiently than can be

NIST Genome Editing Program

Ongoing
The NIST Genome Editing Program develops standards, methods, tools, technology, and community norms to advance the reliability of genome editing technology and

News

young woman in a lab coat looks at vials with a small amount of green liquid in them before putting them into a machine

Spotlight: Putting NIST at the Forefront of Genome Editing

We started from the bottom and now we’re here — geneticist and molecular biologist Samantha Maragh brought NIST into a revolution for the biomedical sciences when it was only at its origins, putting the value of standards front and center in everyone's minds. It all started with bacteria, specifically bacteria with genomic elements called CRISPR, along with a protein called Cas9. These particular
Two human figures made of puzzle pieces, with colors mixed on the left but lined up in rows on the right

First Complete Human Genome Poised to Strengthen Genetic Analysis, NIST Study Shows

Illustration shows two strands of DNA side by side being analyzed

New Benchmark Could Improve Detection of Genetic Variants Linked to Spinal Muscular Atrophy, Other Diseases

Megan Cleveland with white lab coat and safety glasses in front of a lab bench with pipettes.

RNA Reference Materials Are Useful for Standardizing COVID-19 Tests, Study Shows

Publications

Complete genomic and epigenetic maps of human centromeres

Author(s)
Nicolas Altemose, Glennis Logsdon, Andrey Bzikadze, Pragya Sidhwani, Sasha Langley, Gina Caldas, Justin Zook, Ivan Alexandrov, Karen Miga
Existing human genome assemblies have almost entirely excluded repetitive sequences within and near centromeres, limiting our understanding of their

The complete sequence of a human genome

Author(s)
Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, Jennifer McDaniel, Nathanael David Olson, Justin Wagner, Justin Zook, Evan Eichler, Karen Miga, Adam Phillippy
Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions

RNA reference materials with defined viral RNA loads of SARS-CoV-2 – A useful tool towards a better PCR assay harmonization

Author(s)
Laura Vierbaum, Nathalie Wojtalewicz, Vanessa Lindig, Ulf Dühring, Hans-Peter Grunert, Christian Drosten, Victor Corman, Daniela Niemeyer, Sandra Ciesek, Holger Rabenau, Annemarie Berger, Martin Obermeier, Andreas Nitsche, Janine Michel, Martin Mielke, Jim Huggett, Denise O'Sullivan, Simon Cowen, Megan Cleveland, Peter Vallone, Samreen Falak, Andreas Kummrow, Thomas Keller, Ingo Schellenberg, Heinz Zeichhardt, Martin Kammel
The outbreak and pandemic spread of SARS-CoV-2, the cause of the novel coronavirus disease (COVID-19), led to the need for a reliable detection method to track

Awards