Article
An optimization framework for unsupervised identification of rare copy number variation from SNP array data.
Genome biology - 1 Jan 2009
Yavas Gökhan, Koyutürk Mehmet, Ozsoyoğlu Meral, Gould Meetha P, LaFramboise Thomas
Abstract excerpt
Copy number variants (CNVs) have roles in human disease, and DNA microarrays are important tools for identifying them. In this paper, we frame CNV identification as an objective function optimization problem. We apply our method to data from hundreds of samples, and demonstrate its ability to detect CNVs at a high level of sensitivity without sacrificing specificity. Its performance compares favorably with...
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