有哪些信誉好的足球投注网站文献_2010-CNV Workshop_ an integrated platform for high-throughput copy number variation discovery and clinical diagnostics.pdfVIP
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Gai et al. BMC Bioinformatics 2010, 11:74 /1471-2105/11/74 SOFTWARE Open Access CNV Workshop: an integrated platform for high- throughput copy number variation discovery and clinical diagnostics 1† 1† 2 1 1 1 1 Xiaowu Gai , Juan C Perin , Kevin Murphy , Ryan O’Hara , Monica D’arcy , Adam Wenocur , Hongbo M Xie , Eric F Rappaport3,4, Tamim H Shaikh4,5, Peter S White1,2* Abstract 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 algorithms is supported. Predicted CNVs are captured in a MySQL database that supports cohort-based projects and incorporates a secure user authentication layer and user/admin roles. To assist with determination of pathogenicity, detected CNVs are also annotated automatically for gene content, known disease loci, and gene- based liter
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