General Information
| Description | A graphical software package for detecting rare copy number variations in exome-sequencing data |
| Homepage | https://sourceforge.net/projects/fishingcnv/ |
Publications
FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data
Summary:
Rare copy number variations (CNVs) are frequent causes of genetic diseases. We developed a graphical software package based on a novel approach that can consistently identify CNVs of all types (homozygous deletions, heterozygous deletions, heterozygous duplications) from exome-sequencing data without the need of a paired control. The algorithm compares coverage depth in a test sample against a background distribution of control samples and uses principal component analysis to remove batch effects. It is user friendly and can be run on a personal computer.
Availability and implementation:
The main scripts are implemented in R (2.15), and the GUI is created using Java 1.6. It can be run on all major operating systems. A non-GUI version for pipeline implementation is also available. The program is freely available onlinehttps://sourceforge.net/projects/fishingcnv/
Contact:
yuhao.shi@mail.mcgill.ca
Supplementary information:
Supplementary data are available at Bioinformatics online.
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