ArticleBMC bioinformatics2010
Detection and reconstruction of tandemly organized de novo copy number variations.
Article in BMC bioinformatics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Common copy number variation detection from multiple sequenced samples.IEEE transactions on bio-medical engineering · 2014Article
- CNVeM: copy number variation detection using uncertainty of read mapping.Journal of computational biology : a journal of computational molecular cell biology · 2013Article
- Rare copy number variants contribute to congenital left-sided heart disease.PLoS genetics · 2012Article
- Efficient algorithms for tandem copy number variation reconstruction in repeat-rich regions.Bioinformatics (Oxford, England) · 2011Article
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Authors and funding
3 authors.
Funding
Abstract
backgroundThe characterization of structural variations (SV) such as insertions, deletions and copy number variations is a critical step in the process of understanding the full genetic architecture of organisms. Copy number variations (CNV) have attracted much recent attention due to their effects on gene expression and disease status.
resultsIn this paper, we present a method that utilizes next-generation sequencing technologies (NGS), in order to both detect and reconstruct CNVs. We focus on a special type of CNV, namely tandemly organized de novo CNVs, which have been shown to occur with high frequency in the mouse genome.
conclusionsWe apply our method to CNV regions randomly inserted into the reference mouse genome and show that our method achieves good performance for both detection and reconstruction of tandemly organized de novo CNVs.
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