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OJBTM
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
ABSTRACT
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;