An optimization framework for unsupervised identification of rare copy number variation from SNP array data.

Autor: Yavas G; Department of Electrical Engineering and Computer Science, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106, USA. gokhan.yavas@case.edu, Koyutürk M, Ozsoyoğlu M, Gould MP, LaFramboise T
Jazyk: angličtina
Zdroj: Genome biology [Genome Biol] 2009; Vol. 10 (10), pp. R119. Date of Electronic Publication: 2009 Oct 23.
DOI: 10.1186/gb-2009-10-10-r119
Abstrakt: 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 currently available methods and it reveals previously unreported gains and losses.
Databáze: MEDLINE