A survey of analysis software for array-comparative genomic hybridisation studies to detect copy number variation

Hum Genomics. 2010 Aug;4(6):421-7. doi: 10.1186/1479-7364-4-6-421.

Abstract

Copy number variants (CNVs) create a major source of variation among individuals and populations. Array-based comparative genomic hybridisation (aCGH) is a powerful method used to detect and compare the copy numbers of DNA sequences at high resolution along the genome. In recent years, several informatics tools for accurate and efficient CNV detection and assessment have been developed. In this paper, most of the well known algorithms, analysis software and the limitations of that software will be briefly reviewed.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Comparative Genomic Hybridization / methods*
  • Computational Biology / methods*
  • DNA Copy Number Variations / genetics*
  • Data Collection*
  • Humans
  • Markov Chains
  • Software / statistics & numerical data*