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Collection of tools for performing robust case-control disease and quantitative trait association studies using Copy Number Variants- Latest version should now be downloaded from Bioconductor



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The RDXplorer is a computational tool for copy number variants (CNV) detection in whole human genome sequence data using read depth (RD) coverage. CNV detection is based on the Event-Wise Testing (EWT) algorithm recently published by our group.

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GeneNavi can create an amazing navigation map of your cared Genes, OMIMs or disease. You can also search snps or cnvs related to some genes or in certain chromosome regions. If you want to verify and visualize your new founded SNPs or CNVs in the NGS experiment, GeneNavi is at your service.

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CNViewer is a user-friendly tool for analysis and comparison of Copy Number Variation (CNV). It presents several functionalities such as add sensitive (usually clinical/phenotypic) data, export module, selection of genomic region of interest and supports three methods to input data. CNViewer is an application that runs its core functions entirely on the browser. It is easy to be accessed because no download is necessary. It allows securely use data from local (flexibility only possible with dire

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wuHMM (Washington University Hidden Markov Model) is an algorithm for detecting DNA copy number variants (CNVs) from oligonucleotide array comparative genomic hybridization (aCGH) data. This package also contains an algorithm for assigning discrete CNV-region genotypes when multiple samples are available and data visualization tools. Documentation: Prerequisites Usage Manuscript describing wuHMM wuHMM was previously housed at Papers citing wuHMM Cahan, P., Li

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