NimbleGen Systems Inc. has announced that the Genome Structural Variation Consortium’s Copy Number Variation (CNV) Project has selected NimbleGen human CGH microarrays as their platform to conduct Phase 2 of their studies.
The project aims to extend the current human genome CNV map down to a 500 bp resolution, which would be a ~100-fold improvement over the existing map released last year.
The consortium is an international collaboration of researchers from the Wellcome Trust Sanger Institute (Hinxton, UK), Brigham and Women’s Hospital & Harvard Medical School (Boston, MA, USA), and the Hospital for Sick Children (Toronto, Canada).
Phase 1 of the CNV project was completed using large insert clone arrays and a commercial genotyping microarray platform, which identified human CNVs in the HapMap populations in a genome-wide manner, down to ~50 Kb resolution.
The consortium leaders have now selected NimbleGen’s microarray platform, consisting of 2.1 million long oligonucleotide probes per array, because it enables them to survey the whole human genome at an average probe spacing of 50 bp with only 20 arrays (total of 42 million probes). This results in a more cost-effective approach.
Nigel Carter, Ph.D., one of the consortium leaders and an investigator at the Wellcome Trust Sanger Institute, commented, “The first phase of the CNV project gave us a remarkable view of a previously poorly appreciated force for human variation. The new phase will allow us to refine that, looking at smaller and, most probably, more common variants.”
Matthew Hurles, Ph.D., another consortium leader and investigator at the Sanger Institute, noted, “Already the first-phase map has allowed researchers to produce new findings on the role of copy-number variation in diseases. CNV will be incorporated into many new disease studies to identify variants that are invisible to other detection systems. The next phase that we announced July 5th, will increase the power of our molecular microscope, allowing us see deeper into the variation in our genome and help to unravel the role of CNV in disease.”