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exomeCopy | Modeling read counts for CNV detection in exome sequencing data

A package for the detection of copy number variants (CNV) from exome sequencing samples, including unpaired samples. exomeCopy 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. Simulations show high sensitivity for detecting heterozygous and homozygous CNVs, outperforming normalization and state-of-the-art segmentation methods.

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exomeCopy classification

exomeCopy specifications

Unique identifier:
OMICS_02062
Interface:
Command line interface
Operating system:
Unix/Linux, Mac OS, Windows
License:
GNU General Public License version 2.0
Stability:
Stable
Software type:
Package/Module
Restrictions to use:
None
Programming languages:
R
Computer skills:
Advanced
Maintained:
Yes

exomeCopy distribution

versioning

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No versioning.

exomeCopy support

Documentation

Credits

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Publications

Institution(s)

Max Planck Institute for Molecular Genetics, Berlin, Germany

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