Comparative analysis of copy number variation detection methods and database construction.

ABSTRACT:

Background

Array-based detection of copy number variations (CNVs) is widely used for identifying disease-specific genetic variations. However, the accuracy of CNV detection is not sufficient and results differ depending on the detection programs used and their parameters. In this study, we evaluated five widely used CNV detection programs, Birdsuite (mainly consisting of the Birdseye and Canary modules), Birdseye (part of Birdsuite), PennCNV, CGHseg, and DNAcopy from the viewpoint of performance on the Affymetrix platform using HapMap data and other experimental data. Furthermore, we identified CNVs of 180 healthy Japanese individuals using parameters that showed the best performance in the HapMap data and investigated their characteristics.

Results

The results indicate that

SUBMITTER: Koike A 

PROVIDER: S-EPMC3058066 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature