Difference between revisions of "ExomeCopy"

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== Description ==
 
== Description ==

Revision as of 11:27, 22 April 2012

Application data

Created by Love MI
Biological application domain(s) Exome and Whole genome variant detection, Copy number estimation
Principal bioinformatics method(s) Copy number estimation, Exome analysis, Hidden Markov Model
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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