Journal article

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

Teo Shu Mei, Agus Salim, Stefano Calza, Ku Chee Seng, Chia Kee Seng, Yudi Pawitan

BMC Bioinformatics | BMC | Published : 2010


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 ..

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