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Health

Precision medicine

Overview

NIST is playing a pivotal role in helping to define the measurements and standards needed to ensure the promise of precision medicine, which is an emerging approach for disease prevention and treatment that takes into account an individual’s genes, environment and lifestyle.

NIST and the Promise of Precision Medicine
NIST and the Promise of Precision Medicine

News and Updates

Projects and Programs

Genome editing technologies

NIST Genome Editing Consortium

Ongoing
The National Institute of Standards and Technology Genome Editing Consortium addresses the measurements and standards needed to increase confidence and lower

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
GIAB Logo

Genome in a Bottle

Ongoing
Consortium hosted by NIST dedicated to authoritative characterization of benchmark human genomes. Sign up for General GIAB and Analysis Team email lists. Public

Publications

FixItFelix: improving genomic analysis by fixing reference errors

Author(s)
Sairam Behera, Jonathan LeFaive, Peter Orchard, Justin Zook, Fritz Sedlazeck
The current version of the human reference genome, GRCh38, contains a number of errors including 1.2 Mbp of falsely duplicated and 8.04 Mbp of collapsed regions

The Proteomics Standards Initiative at Twenty Years: Current Activities and Future Work

Author(s)
Eric Deutsch, Juan Antonio Vizcaino, Andrew Jones, Pierre-Alain Binz, Henry Lam, Joshua Klein, Wout Bittremeieux, Yasset Perez-Riverol, David Tabb, Mathias Walzer, Sylvie Ricard-Blum, Henning Hermjakob, Steffen Neumann, Tytus Mak, Shin Kawano, Luis Mendoza, Tim Van Den Bossche, Ralf Gabriels, Nuno Bandeira, Jeremy Carver, Benjamin Pullman, Zhi Sun, Nils Hoffman, Jim Shofstahl, Yunping Zhu, Federica Quaglia, Silvio Tosatto, Sandra Orchard
The Human Proteome Organization (HUPO) Proteomics Standards Initiative (PSI) has been successfully developing guidelines, data formats, and controlled

Semi-automated assembly of high-quality diploid human reference genomes

Author(s)
Erich Jarvis, Giulio Formenti, Jennifer McDaniel, Nathanael David Olson, Justin Wagner, Justin Zook, Kerstin Howe, Karen Miga
The current human reference genome, GRCh38, represents over 20 years of effort to generate a high-quality assembly, which has benefitted society. However, it