Illumina, Inc. has announced that it has further enriched its end-to-end genotyping solutions, launching software tools that enable customers to use Infinium™ SNP genotyping data to analyze DNA copy number changes and characterize loss of heterozygosity.
These two conditions provide informative molecular signposts of cancer development and progression and offer potential to help researchers discover diagnostic and therapeutic targets.
Copy number changes occur when a chromosomal sequence or an entire chromosome is amplified erratically or deleted altogether.
Such copy number aberrations are typical of cancer cells and may provide clues to help identify genes, promoter regions and biomarkers implicated in the unchecked growth patterns of cancer cells.
Loss of heterozygosity (LOH) is a related condition, and one that is telling of cancer onset and/or progression since it can sometimes occur without apparent copy number changes.
Every person receives two copies of each chromosome - one from each parent. LOH occurs when one copy of a chromosome or chromosomal region is lost either physically or genetically during cell replication, often with unfavorable results.
In fact, LOH analysis played a key role in the original discovery of tumor suppressor genes (TSGs), whose functional loss is associated with tumor initiation.
Illumina claims that, whole-genome SNP-based arrays such as those developed by Company overcome this limitation by providing both SNP data and copy number information.
"We're very pleased to announce today the release of BeadStudio 2.0 software, providing new tools for understanding cancer and disease progression," stated Scott Kahn, Ph.D., Vice President and Chief Information Officer at Illumina.
"As always, our genotyping data is readily exportable into powerful, third-party packages for detailed analysis across multiple samples."
Illumina genotyping customers will benefit from an upgraded version of BeadStudio software with enhanced analytical capability, part of the Company's end-to-end BeadStation solutions for genetic analysis.
The BeadStation is designed to support Sentrix® whole-genome genotyping BeadChips and Illumina's Infinium™ assay, which enables intelligent SNP selection and generates data quality for geneticists performing large-scale disease association studies.