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.

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

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

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

Benchmarking challenging small variants with linked and long reads

Author(s)
Justin Wagner, Nathanael David Olson, Lindsay Harris, Marc L. Salit, Fritz Sedlazeck, Chunlin Xiao, Justin Zook
Genome in a Bottle benchmarks are widely used to help validate clinical sequencing pipelines and develop variant calling and sequencing methods. Here we use

A complete reference genome improves analysis of human genetic variation

Author(s)
Sergey Aganezov, Stephanie Yan, Daniela Soto, Melanie Kirsche, Samantha Zarate, Justin Wagner, Jennifer McDaniel, Nathanael David Olson, Rajiv McCoy, Megan Dennis, Justin Zook, Michael Schatz
Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200 million base pairs of sequence, corrects thousands of structural errors, and