Work

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

Year: 2009

Type: article

Abstract: 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.

Source: Genome biology

DOI: 10.1186/gb-2009-10-10-r119

Authors: Gökhan Yavaş, Mehmet Koyutürk, Meral Özsoyoğlu, Meetha P Gould, Thomas LaFramboise

Institutions: Case Western Reserve University, Cleveland Clinic, Cleveland Clinic Research

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

Open Access status: gold

Estimated APC paid: $5,490

Funders: Case Western Reserve University, National Cancer Institute