On the frequency of copy number variants.

ABSTRACT:

Motivation

Estimating the frequency distribution of copy number variants (CNVs) is an important aspect of the effort to characterize this new type of genetic variation. Currently, most studies report a strong skew toward low-frequency CNVs. In this article, our goal is to investigate the frequencies of CNVs. We employ a two-step procedure for the CNV frequency estimation process. We use family information a posteriori to select only the most reliable CNV regions, i.e. those showing high rates of Mendelian transmission.

Results

Our results suggest that the current skew toward low-frequency CNVs may not be representative of the true frequency distribution, but may be due, among other reasons, to the non-negligible false negative rates that characterize CNV detection methods. M

SUBMITTER: Ionita-Laza I 

PROVIDER: S-EPMC2562008 | biostudies-literature | 2008 Oct

REPOSITORIES: biostudies-literature