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Illumina Launches the Human CNV370-Duo BeadChip for Copy Number Variation Research

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Illumina, Inc. has announced the launch of a DNA Analysis BeadChip developed in collaboration with deCODE genetics.

According to Illumina, the product, called the HumanCNV370-Duo, is the world's first microarray designed to specifically target regions of the genome that show copy number variation (CNV). Copy number variations can occur when a region within a chromosome or an entire chromosome is randomly amplified or deleted.

DNA copy number of certain genomic regions can vary widely from person to person and has already been linked to cancers, congenital disorders, and other common diseases. The HumanCNV370-Duo will allow researchers to increase the number of samples analyzed, while maintaining unprecedented data quality.

Powered by Illumina's Infinium® Assay, the HumanCNV370-Duo can enable researchers to analyze two samples simultaneously and access content for detecting disease-relevant CNV regions. Content found on this BeadChip will also be available on Illumina's Human 1M, a single-chip solution that will profile over one million diverse genetic variants.

"Before the HumanCNV370-Duo was developed, we did not have a tool that could target select regions of the genome that we believe contain the majority of undiscovered CNVs. Preliminary data from this array demonstrate that we can identify numerous novel CNV regions that were notoriously difficult to define using previous technologies and can look for new disease-associated genes and markers," said Jeffrey Gulcher, M.D., Ph.D., Chief Scientific Officer of deCODE genetics.

"Illumina's HumanCNV370-Duo will offer researchers superior quality and content as compared to any other CNV products currently available. We look forward to providing our contract genotyping customers the full benefit of this new and exciting product," said Gulcher.

The HumanCNV370-Duo combines the content found on the HumanHap300-Duo with an additional 55,000 markers specifically designed to target approximately 11,000 novel copy number variant regions. In addition to providing broad coverage of SNPs from the International HapMap Project, the HumanCNV370-Duo can also provide coverage for regions of the human genome believed to contain the majority of undiscovered CNVs.

"Studying copy number variation adds a new level of information to DNA Analysis, and integrating this information into genotyping studies is essential. Researchers are now looking for a tool that can help them identify CNVs found in unstable genomic regions that are difficult to define by current technologies," said Daniel Peiffer, Ph.D., Associate Product Manager for DNA Products at Illumina.

"By working closely with deCODE and accessing their large set of validated CNV regions not currently available in any public repository, we have been able to specifically select a set of regions that are highly likely to represent functional variants for common and rare diseases," Peiffer added.

"We have had a long-standing relationship with deCODE and worked very closely with them to develop novel content for the HumanCNV370-Duo," said Jay Flatley, President and Chief Executive Officer of Illumina. "By adding this BeadChip to our growing product portfolio, we have quickly evolved our technologies to meet the needs of the life sciences community through a successful collaboration with a global leader in gene discovery."