Applied Biosystems Launches New TaqMan® Genotyping Assays to Identify a Leading Form of Structural Variation in the Human Genome

Applied Biosystems, a division of Life Technologies Corporation, today announced the introduction of a new line of genotyping assays that enable researchers to study more closely the significant role that DNA copy number structural variation plays in human health and disease.

The TaqMan® Copy Number Assays are designed to detect and quantify copy number variations (CNVs), which are one of the most frequently occurring forms of structural change within a genome. These assays will enable pharmaceutical, clinical and academic researchers to accurately detect CNVs, which are changes in the number of copies of a gene, a part of a gene, or a large stretch of DNA that occur throughout a genome.

CNVs alter DNA in a way that impacts a host of biological processes. These include the development of cancer, immune system and neurological disorders, as well as how individuals respond to treatments for disease. The TaqMan Copy Number Assays will help researchers to better understand these processes by allowing them to determine CNVs from DNA samples, through a real-time PCR reaction.

An example of this type of research is occurring at Harvard Medical School, Brigham and Women’s Hospital. Researchers there are studying the locations of CNVs in the human genome, and how they can be used as biological markers for susceptibility to human diseases. They are using TaqMan Copy Number Assays to validate the discovery of CNVs identified through the use of array-based platforms.

“Patterns of specific copy number variants have already been associated with increased susceptibility to several human diseases and traits,” said Charles Lee, Ph.D., an Associate Professor in the Department of Pathology at Harvard Medical School, Brigham and Women’s Hospital. “The TaqMan Copy Number Assays represent an excellent complementary technology for confirming the results of our CNV discovery projects, giving us great confidence in the accuracy of our datasets.”

The TaqMan Copy Number Assay solution consists of more than 1.6 million pre-designed TaqMan Copy Number Assays, and Custom TaqMan Copy Number Assays, which allow researchers to detect CNVs in a specific gene, or genome region, if that assay is not available in the pre-designed set. These solutions, in addition to data analysis software, are available on the Applied Biosystems web site.

“Scientists need a powerful genotyping tool that easily validates the discovery of genomic copy number differences in DNA samples,” said Peter Dansky, President of Life Technologies’ Molecular Biology Systems Division. “This technology for advanced genomics research will enable them to perform large-scale screens of biological samples, which will potentially lead to the development of biological markers that will increase their understanding of genetic variation and its role in human disease.”

Applied Biosystems is a global leader in providing innovative instrument systems to accelerate academic and clinical research, drug discovery and development, pathogen detection and forensic DNA analysis. It is a market leader in providing fast, simple and effective genotyping tools. Applied Biosystems, together, with Invitrogen – a leading provider of platform independent, essential life science technologies for disease and drug research, bioproduction and diagnostics – is part of Life Technologies Corporation, which markets the life science industry’s most comprehensive portfolio of solutions for molecular and cell biology. Applied Biosystems and Invitrogen products are used in nearly every major laboratory in the world.