A Survey of Copy‐Number Variation Detection Tools Based on High‐Throughput Sequencing Data
作者： Ruibin Xi , Semin Lee , Peter J. Park
DOI: 10.1002/0471142905.HG0719S75
关键词: DNA sequencing 、 Hum 、 Computational biology 、 Indel 、 Copy-number variation 、 Structural variation 、 Biology 、 Genetics
摘要: Copy-number variation (CNV) is a major class of genomic with potentially important functional consequences in both normal and diseased populations. Remarkable advances development next-generation sequencing (NGS) platforms provide an unprecedented opportunity for accurate, high-resolution characterization CNVs. In this unit, we give overview available computational tools detection CNVs discuss comparative advantages disadvantages different approaches. Curr. Protoc. Hum. Genet. 75:7.19.1-7.19.15. © 2012 by John Wiley & Sons, Inc. Keywords: structural variation; insertion; deletion; indel; inversion; translocation
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