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 Online Journal of Bioinformatics  

  Volume 16 (2): 254-262, 2015.

Review: Genome-wide copy number variation from next generation sequencing data


Styliani Loukatou1, Panagiotis Chatzinikolaou 1, 2 , Dimitrios Vlachakis1,3,4 and Sophia Kossida1,*


1Computational Biology & Medicine Group, Biomedical Research Foundation, Academy of Athens, 2,3Computer Engineering and Informatics Department, University of Patras, 4Bionetwork ltd., Chalandri, Athens, Greece




Loukatou S, Chatzinikolaou P, Vlachakis D, Kossida S., Genome-wide copy number variation from next generation sequencing data, Onl J Bioinform., 16 (2): 254-262, 2015. Next generation sequencing (NGS) is a low cost, high-throughput genome sequencing method evolved from DNA sequencing and converted to a parallel method outputting millions of sequences simultaneously enabling a view of the entire transcriptome. Copy number variations (CNVs) are DNA alterations in the genome with an abnormal or normal variation in the number of copies of one or more segments of DNA and describe large regions of our genome deleted or duplicated on certain chromosomes.


Keywords: Next generation sequencing; Copy number variation; Structural Variation; genome;