CopyMap: localization and calling of copy number variation by joint analysis of hybridization data from multiple individuals

Bioinformatics. 2010 Nov 1;26(21):2776-7. doi: 10.1093/bioinformatics/btq515. Epub 2010 Oct 5.

Abstract

Summary: The program package CopyMap identifies copy number variation from oligo-hybridization and CGH data. Using a time-dependent hidden Markov model to combine evidence of copy number variants (CNVs) across multiple carriers, CopyMap is substantially more accurate than standard hidden Markov methods in identifying CNVs and calling CNV-carriers. Moreover, CopyMap provides more precise estimates of CNV-boundaries.

Availability: The C-source code and detailed documentation for the program CopyMap is available on the Internet at http://www.sph.umich.edu/csg/szoellner/

Publication types

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

MeSH terms

  • Comparative Genomic Hybridization
  • Databases, Genetic
  • Gene Dosage / genetics*
  • Genetic Variation / genetics*
  • Genome, Human
  • Humans
  • Markov Chains
  • Nucleic Acid Hybridization
  • Sequence Analysis, DNA
  • Software*