ExomeCopy
Application data |
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Created by | Love MI |
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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.
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