A Survey of Copy-Number Variation Detection Tools Based on High-Throughput Sequencing Data

Copy-number variation (CNV) is a major class of genomic variation with potentially important functional consequences in both normal and diseased populations. Remarkable advances in development of next-generation sequencing (NGS) platforms provide an unprecedented opportunity for accurate, high-resolution characterization of CNVs. In this unit, we give an overview of available computational tools for detection of CNVs and discuss comparative advantages and disadvantages of different approaches. Curr. Protoc. Hum. Genet. 75:7.19.1-7.19.15. © 2012 by John Wiley & Sons, Inc.