ExomeCopy

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Application data

Created by Love MI
Biological application domain(s) Exome and whole genome variant detection, Copy number estimation, Exome analysis
Principal bioinformatics method(s)
Created at Max-Planck-Institute for Molecular Genetics
Maintained? Yes
Input format(s) BAM
Software features simultaneous normalization and segmentation
Programming language(s) R
Software libraries Bioconductor
Licence GPL 2.0+
Operating system(s) Linux, Windows, Mac OS X

Summary: CNV detection from exome sequencing read depth

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Description

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.


Links


References

  1. . 2011. Statistical Applications in Genetics and Molecular Biology


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