FishingCNV: A graphical software package for detecting rare copy number variations in exome-sequencing data

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Abstract

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. © The Author 2013. Published by Oxford University Press. All rights reserved.

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Shi, Y., & Majewski, J. (2013). FishingCNV: A graphical software package for detecting rare copy number variations in exome-sequencing data. Bioinformatics, 29(11), 1461–1462. https://doi.org/10.1093/bioinformatics/btt151

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