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Applied Genetics Group

Advancing technology and traceability through quality genetic measurements to aid work in Forensic and Clinical Genetics.

Since the late 1980s, NIST has had scientists involved in DNA testing. Early concerns over measurement accuracy and issues with poor quality control of forensic DNA tests caused the Department of Justice to call upon NIST scientists to help with standards development and technology evaluation. For the past several years, our Forensic Genetics Project Team has been part of the Applied Genetics of the Biomolecular Measurements Division at NIST. The Applied Genetics Group was formed to focus on developing standards and technology to aid human, plant, and animal identification and to benefit agricultural, law enforcement, and clinical applications using genetic information.  Our work is primarily nucleic acid-based and focuses on the characterization of genetic polymorphisms. We utilize the techniques of gel and capillary electrophoresis for the characterization of size- and sequence polymorphisms. Variations on the polymerase chain reaction (PCR) technique such as rapid PCR, multiplex PCR, real-time PCR, and digital PCR are used to genotype, sequence, and provide quantitative information pertaining to an organism's genome. Standard Reference Materials (SRMs) developed by the Applied Genetics group enable accurate measurements of short tandem repeats (STRs) commonly used in the field of human identity testing. A clinical standard for the CAG triplet repeat-based Huntington's disease provides a calibration standard for the challenging measurements of these length based polymorphisms. Information and techniques developed by the Applied Genetics group are freely shared on the websites.

Projects and Programs

Biomanufacturing Initiative

Ongoing
Protein drugs are the top selling pharmaceuticals worldwide, a hundred billion dollar industry, but also the fastest growing category of health care costs. The

News and Updates

Publications

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

Author(s)
Stephen Lincoln, Tina Hambuch, Justin Zook, Sara Bristow, Kathryn Hatchell, Rebecca Truty, Michael Kennemer, Brian Shirts, Andrew Fellowes, Shimul Chowdhury, Eric Klee, Shazia Mahamdallie, Megan Cleveland, Peter Vallone, Yan Ding, Sheila Seal, Wasanthi DeSilva, Farol Tomson, Catherine Huang Huang, Russell Garlick, Nazneen Rahman, Marc L. Salit, Stephen Kingsmore, Matthew Ferber, Swaroop Aradhya, Robert Nussbaum
Next-generation sequencing (NGS) is widely used and cost-effective. However, depending on the specific methods used, NGS can have limitations with certain

Cautionary Note on Contamination of Reagents Used for Molecular Detection of SARS-CoV-2

Author(s)
Peter Vallone, James Huggett, Vladimir Benes, Jeremy Garson, Kathryn Harris, Mikael Kubista, Timothy McHugh, Jacob Moran-Gilad, Tania Nolan, Michael Pfaffl, Marc Salit, Greg Shipley, Jo Vandesompele
Reverse transcription (RT)-PCR, the principal diagnostic method applied in the world-wide struggle against COVID-19, is capable of detecting a single molecule

Awards

Press Coverage