Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

• Published in: BMC bioinformatics Vol. 14; no. S11; p. S1
• Main Authors: Zhao, Min, Wang, Qingguo, Wang, Quan, Jia, Peilin, Zhao, Zhongming
• Format: Journal Article
• Language: English
• Published: England BioMed Central 13.09.2013; BioMed Central Ltd
• Subjects: DNA Copy Number Variations; Exons; Genetic diversity; Genome; Genomics - methods; Genotype; High-Throughput Nucleotide Sequencing - methods; Humans

Copy number variation (CNV) is a prevalent form of critical genetic variation that leads to an abnormal number of copies of large genomic regions in a cell. Microarray-based comparative genome hybridization (arrayCGH) or genotyping arrays have been standard technologies to detect large regions subje...