Roche Nimblegen's CGH microarray platform was used to generate the highest-resolution map of human genome copy number variation.
Recent advances in microarray technology have led to the discovery of extensive copy number variation in the human genome, including DNA copy number gains (duplications), losses (deletions), and multiallelic or complex rearrangements.
Copy number variants (CNVs) have been shown to contribute to inherited genetic disease and to confer resistance to infection, but the full extent of CNVs in the human population and the role of CNVs in common, complex diseases is not yet well understood.
The Genome Structural Variation Consortium used a set of 20 Nimblegen HD2 arrays, each array containing 2.1 million probes for a total of 42 million probes, to extend the current human genome CNV map down to 500bp resolution.
Data from this study, which included analysis of 20 females of European ancestry (CEU Hapmap samples) and 20 females of African ancestry (YRI Hapmap samples), has recently been made available as a public resource.
'Although the scientific research community has yet to fully understand the entire contribution of CNVs to common, complex diseases, we have seen that many genetic diseases within families often result from CNVs, and the presence of other CNVs may protect individuals with other diseases, including HIV and malaria,' said Gerd Maass, chief executive officer, Roche Nimblegen.
