The number of copies of certain genes, known as copy number variation (CNV), that a person has can be linked to certain biomedical consequences, with certain genes being elevated in cancer cells for example.
According to the company, its new Genotyping Console 2.0 (GTC 2.0) software offers researchers using Affymetrix SNP 6.0 arrays an easy-to-use analysis tool for determining single nucleotide polymorphism (SNP) genotypes and chromosomal CNV in whole-genome association and cytogenetic studies.
"Over the past year, the genetics community has learned that copy number changes are far more common than previously thought and are directly linked to a number of biomedical consequences," said Steve Lincoln, vice president of informatics at Affymetrix.
"Affymetrix customers are now able to uncover and measure more copy number changes as well as SNP genotypes in whole-genome association and cytogenetic studies."
This increased ability to detect smaller chromosomal gains and losses that they could not have detected with previous array technologies stems from the platform's increased sensitivity, which the company claims is as much as 10 times as sensitive as competing platforms.
In addition the increased sensitivity, the company claims the software has the ability detect the loss of heterozygosity and enables scientists to identify copy-neutral events that frequently occur in many congenital diseases.
Research published over the last year has shown that certain CNVs are associated with diseases such as Alzheimer's, HIV susceptibility and Parkinson's, while many cytogenetic abnormalities have been linked to congenital conditions like mental retardation.
