Hidden copy number variation in the HapMap population.

ABSTRACT: Recently, the extent of copy number variation (CNV) throughout the genome has been shown to be far greater than previously thought. Further, it has been demonstrated that specific copy number variable regions (CNVRs) are associated with particular diseases, suggesting that these genetic variations may have an important biological role. Hence, calling CNVRs and subsequently classifying samples as "losses" or "gains" is of great interest. A number of papers have been published containing classifications of CNVs, and here we show how the presence of pedigree information can be used for assessing the performance of those classification methods. In this article, by examining CNV classifications made in the HapMap samples, we show that estimates of the number of false-positive classifications pe

SUBMITTER: Marioni JC 

PROVIDER: S-EPMC2481329 | biostudies-literature | 2008 Jul

REPOSITORIES: biostudies-literature