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Short description:
Please summarise the application in a few sentences. Avoid links here. CNV detection from exome sequencing read depth
Software version:
Biological application domain(s) (Phylogenetics, Genomics, ...):
Exome and whole genome variant detection, Copy number estimation, Exome analysis,
Principal bioinformatics method(s) (Assembly, Mapping, ...):
,
Technology (Sanger, Illumina, 454, SOLiD, Ion Torrent, ...):
Interface (Command line, Web UI, Desktop GUI, SOAP WS, HTTP WS, API, QL):
Resource type (Command-line tool, Web application, Desktop application, Script, Suite, Workbench, Database portal, Workflow, Plug-in, Library, Web API, Web service, SPARQL endpoint):
Max-Planck-Institute for Molecular Genetics,
== Description == <!-- Describe the application in the space below --> Detection of copy number variants (CNV) from exome sequencing samples, including unpaired samples. The package implements a hidden Markov model which uses positional covariates, such as background read depth and GC-content, to simultaneously normalize and segment the samples into regions of constant copy count. <!-- -->
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