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A method to detect copy number variation using shotgun sequencing. The method is based on a robust statistical model that describes the complete analysis procedure and allows the computation of essential confidence values for detection of CNV.

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1 user review

1 user review

Antoine Rousselin's avatar image Antoine Rousselin's country flag

Antoine Rousselin

I have been using this tool since 2009 for the detection of CNV in genes predisposed to breast and ovarian cancer. After having modified a little original script, adapt the parameters this software is very precise (specificity, sensitivity). But it is not suitable for analysis on a large panel of genes.

CNV-seq forum

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CNV-seq classification

CNV-seq specifications

Software type:
Restrictions to use:
Operating system:
Computer skills:
Command line interface
Input data:
Aligned read positions
Programming languages:
Perl, R

CNV-seq distribution


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Department of Biological Sciences, National University of Singapore, Singapore

Link to literature

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