Bioinformatics

Bioinformatics plays a crucial role in advancing NIST's mission by computationally analyzing large amounts of complex biological data generated by NIST and its collaborators. NIST provides benchmarks for the computational tools and methodologies necessary for conducting such work. Omics (genomic, proteomic, metabolomic, metagenomic, and transcriptomic) data, generated both inside and outside of NIST, NIST’s reference materials, benchmark datasets, and metadata standards underpin biological research and innovation. These standards help ensure the accuracy and reliability of large-scale biological measurements, which is essential for fields such as engineering biology, precision medicine, biotechnology, and public health.  

The NIST-hosted Genome in a Bottle Consortium has developed authoritatively characterized human genome reference materials. As the first RMs to be characterized for billions of properties, these have been used to train and test AI-based models and other bioinformatics tools. Similarly, the NIST Genome Editing Program, including the public-private partnership NIST Genome Editing Consortium, is developing benchmark samples, control datasets, and metadata norms, and conducting interlaboratory studies to qualify bioinformatics tools and approaches used to detect intended and unintended genome edits which is essential information for clinical applications.  

Further work in this area includes onboarding and deploying systematic approaches to add confidence to computational pipelines and their outputs for measurements used to identify where genome editing technologies may have made unintended (off-target) changes in a genome. NIST’s Microbial Metrology Program develops advanced measurements, reference materials, and standards for microbial systems to promote human health, precision medicine, advanced manufacturing, and other industrial applications. The Cellular Engineering Group is developing predictable and versatile RNA circuits, based on nucleic acid strand displacement reactions to meet emerging molecular computation and measurement needs in biological systems. The NIST Mass Spectrometry Data Center develops evaluated mass spectral libraries and provides related software tools.