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CNAseg | A framework for identification of copy number changes in cancer from second-generation sequencing data

A framework for the identification of CNA events that uses flowcell-to-flowcell variability to estimate the false positive rate and the depth of coverage to finalize copy number calls. HMMseg uses the Skellam distribution to compare read depth in tumour and control samples, which allows the use of smaller window sizes for copy number estimation and leads to greater sensitivity in pinpointing breakpoints for small CNAs.

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CNAseg classification

CNAseg specifications

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CNAseg distribution


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CNAseg support


  • Sergii Ivakhno <>


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Cancer Research UK Cambridge Research Institute, Li Ka Shing Centre, Cambridge, UK

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