Copy number variation accuracy in genome-wide association studies.

ABSTRACT:

Background/aim

Copy number variations (CNVs) are a major source of alterations among individuals and are a potential risk factor in many diseases. Numerous diseases have been linked to deletions and duplications of these chromosomal segments. Data from genome-wide association studies and other microarrays may be used to identify CNVs by several different computer programs, but the reliability of the results has been questioned.

Methods

To help researchers reduce the number of false-positive CNVs that need to be followed up with laboratory testing, we evaluated the relative performance of CNVPartition, PennCNV and QuantiSNP, and developed a statistical method for estimating sensitivity and positive predictive values of CNV calls and tested it on 96 duplicate samples in our da

SUBMITTER: Lin P 

PROVIDER: S-EPMC3153341 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature