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

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 subject to copy number changes in genomes until most recently high-resolution sequence data can be analyzed by next-generation sequencing (NGS). During the last several years, NGS-based analysis has been widely applied to identify CNVs in both healthy and diseased individuals. Correspondingly, the strong demand for NGS-based CNV analyses has fuelled development of numerous computational methods and tools for CNV…

• RJ
  Robert J. Kleberg, Jr. and Helen C. Kleberg Foundation
• NI
  National Institutes of Health

  Awards: P50CA095103, P30CA68485, R01LM011177