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  3. Whole-exome sequencing
  4. CNV detection
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A tool for copy number variation (CNV) detection for targeted resequencing data such as those from whole-exome capture data.

Software type:
Package
Interface:
Command line interface
Restrictions to use:
None
Biological technology:
Illumina
Operating system:
Unix/Linux
Programming languages:
Python, R
License:
GNU General Public License version 2.0
Computer skills:
Advanced
Stability:
Stable
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  • (Li et al., 2012) CONTRA: copy number analysis for targeted resequencing. Bioinformatics.
    PMID: 22474122
  • (Samarakoon et al., 2014) Identification of copy number variants from exome sequence data. BMC genomics.
    PMID: 25102989
  • (Kadalayil et al., 2014) Exome sequence read depth methods for identifying copy number changes. Briefings in bioinformatics.
    PMID: 25169955
  • (Tan et al., 2014) An evaluation of copy number variation detection tools from whole-exome sequencing data. Human mutation.
    PMID: 24599517

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