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  3. Whole-exome sequencing
  4. CNV detection
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A software package for the detection of copy number variants (CNVs) from whole-exome sequencing data.

Software type:
Package
Interface:
Command line interface
Restrictions to use:
None
Operating system:
Unix/Linux
Programming languages:
Perl
Computer skills:
Advanced
Stability:
Stable
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  • (Magi et al., 2013) EXCAVATOR: detecting copy number variants from whole-exome sequencing data. Genome biology.
    PMID: 24172663
  • (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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