NEW YORK (GenomeWeb News) - The Genome Structural Variation Consortium, an international group of applied genomics researchers from the US, UK, and Canada, has kicked off Phase 2 of an effort to create a high-resolution map of copy number variation linked to diseases in humans.
The consortium, which includes researchers from the Center for Applied Genomics at the Research Institute of the Hospital for Sick Children, the Wellcome Trust Sanger Institute, and from Brigham and Women's Hospital, said Friday it will work with NimbleGen Systems to develop a comprehensive map of human CNVs and will focus on identifying genes involved in both rare and common diseases.
The consortium completed a first-generation draft of these CNVs in 2006. The group said in a statement that new technology, including "high-density microarrays and new computer algorithms," will enable it to develop a CNV map at a level 100-fold finer than that map.
The consortium said that it will use microarrays from NimbleGen that include 2.1 million features and will enable genome-wide detection of CNVs with 42 million probes.
"Our experiments will generate the highest resolution CNV catalogue of worldwide populations," said Stephen Scherer, senior scientist and director of TCAG at Toronto’s Hospital for Sick Children.
The group said it will use the new arrays to scan DNA from "dozens of individuals of diverse geographic background, in experiments designed to capture all CNVs with a frequency of five percent or greater in the world."
"Ultimately, the data generated from our Phase 2 studies will be important for disease association studies, cancer biomarker studies, and accurate interpretation of many genetic diagnostic tests," said Charles Lee, who is director of Cytogenetics at Brigham and Women's Hospital at Harvard Medical School.