CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics

Background: Recent studies have shown that copy number variations (CNVs) are frequent in higher eukaryotes and associated with a substantial portion of inherited and acquired risk for various human diseases. The increasing availability of high-resolution genome surveillance platforms provides opportunity for rapidly assessing research and clinical samples for CNV content, as well as for determining the potential pathogenicity of identified variants. However, few informatics tools for accurate and efficient CNV detection and assessment currently exist. Results: We developed a suite of software tools and resources (CNV Workshop) for automated, genome-wide CNV detection from a variety of SNP array platforms. CNV Workshop includes three major components: detection, annotation, and presentation of structural variants from genome array data. CNV detection utilizes a robust and genotype-specific extension of the Circular Binary Segmentation algorithm, and the use of additional detection algo...

• Type: Journal
• Year: 2010
• Where: BMCBI
• Authors: Xiaowu Gai, Juan C. Perin, Kevin Murphy, Ryan O'Hara, Monica D'arcy, Adam Wenocur, Hongbo M. Xie, Eric F. Rappaport, Tamim H. Shaikh, Peter S. White
• Keywords: BMCBI 2010, CNV Content, CNV Detection, Efficient Cnv Detection