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

Ruibin Xi1, Semin Lee2, Peter J. Park3

1 School of Mathematical Sciences and Center for Statistical Science, Peking University, Beijng, China, 2 Center for Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, 3 Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Unit 7.19
DOI:  10.1002/0471142905.hg0719s75
Online Posting Date:  October, 2012
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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.

Keywords: structural variation; insertion; deletion; indel; inversion; translocation

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Table of Contents

  • Introduction
  • Overview of CNV Detection Approaches Based on NGS Data
  • Discussion
  • Literature Cited
  • Figures
  • Tables
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Literature Cited

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