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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

Clinical and Forensic Reference Materials

Ongoing
Below is a listing of the reference materials currently produced by the Applied Genetics group. Clinical Diagnostics SRM 2393 - CAG Repeat Length Mutation in Huntington`s Disease SRM 2365 - BK Virus DNA Quantitative Standard SRM 2366a - Cytomegalovirus DNA (Towne Δ147 BAC) for DNA SRM 2367 - JC

Digital PCR

Ongoing
With appropriately validated assays, digital polymerase chain reaction (dPCR) determines the number of DNA targets (copies) per reaction partition, without the need for a standard curve. Reaction partitions can be in the form of fixed chambers in a microfluidic device, referred to as chamber digital

DNA Mixture Interpretation

Ongoing
Interlaboratory Studies Mixture interlaboratory studies provide a means to assess a laboratory's ability to process and interpret DNA mixtures. Initial ‘Mixed Stain’ studies (published in 2001) provided physical samples for DNA profiling with the first commercial STR typing tests. Later, mixture

Forensic Genetics

Ongoing
Since the late 1980s, NIST has had scientists involved in DNA testing (aka "DNA Fingerprinting"). Early concerns over measurement accuracy and poor quality control of forensic DNA tests caused the Department of Justice to call upon NIST scientists to help with standards development and technology

News and Updates

Publications

The Application of Digital PCR as a Reference Measurement Procedure to Support the Accuracy of Quality Assurance for Infectious Disease Molecular Diagnostic Testing

Author(s)
Samreen Falak, Denise O'Sullivan, Megan Cleveland, Simon Cowen, Eloise Busby, Alison Devonshire, Esmeralda Valiente, Gerwyn Jones, Martin Kammel, Mojca Milavec, Laura Vierbaum, Ingo Schellenberg, Heinz Zeichhardt, Andreas Kummrow, Peter Vallone, Rainer Macdonald, Jim Huggett
Background Nucleic Acid Amplification Tests (NAATs) are used to diagnose many infectious diseases. They are typically sensitive and specific and can be quickly

Development of a Forensic DNA Research Grade Test Material

Author(s)
Erica Romsos, Lisa Borsuk, Carolyn Steffen, Sarah Riman, Kevin Kiesler, Peter Vallone
Advancements in forensic DNA typing technology and methods have resulted in increased sensitivity and, while beneficial, carry the weight of more challenging

Awards

Press Coverage