Applied Biosystems has introduced a line of genotyping assays that enable researchers to study more closely the 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.
The 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 understand these processes better 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.
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 genomic 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 website.
