Identification of recurrent regions of copy-number variants across multiple individuals

Background: Algorithms and software for CNV detection have been developed, but they detect the CNV regions sample-by-sample with individual-specific breakpoints, while common CNV regions are likely to occur at the same genomic locations across different individuals in a homogenous population. Current algorithms to detect common CNV regions do not account for the varying reliability of the individual CNVs, typically reported as confidence scores by SNP-based CNV detection algorithms. General methodologies for identifying these recurrent regions, especially those directed at SNP arrays, are still needed. Results: In this paper, we describe two new approaches for identifying common CNV regions based on (i) the frequency of occurrence of reliable CNVs, where reliability is determined by high confidence scores, and (ii) a weighted frequency of occurrence of CNVs, where the weights are determined by the confidence scores. In addition, motivated by the fact that we often observe partially ov...

• Type: Journal
• Year: 2010
• Where: BMCBI
• Authors: Teo Shu Mei, Agus Salim, Stefano Calza, Ku Chee Seng, Chia Kee Seng, Yudi Pawitan
• Keywords: BMCBI 2010, CNV Regions, Common Cnv Regions, Confidence Scores