Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data

Background: Genomic deletions and duplications are important in the pathogenesis of diseases, such as cancer and mental retardation, and have recently been shown to occur frequently in unaffected individuals as polymorphisms. Affymetrix GeneChip whole genome sampling analysis (WGSA) combined with 100 K single nucleotide polymorphism (SNP) genotyping arrays is one of several microarray-based approaches that are now being used to detect such structural genomic changes. The popularity of this technology and its associated open source data format have resulted in the development of an increasing number of software packages for the analysis of copy number changes using these SNP arrays. Results: We evaluated four publicly available software packages for high throughput copy number analysis using synthetic and empirical 100 K SNP array data sets, the latter obtained from 107 mental retardation (MR) patients and their unaffected parents and siblings. We evaluated the software with regards to...

• Type: Journal
• Year: 2007
• Where: BMCBI
• Authors: Ágnes Baross, Allen D. Delaney, H. Irene Li, Tarun Nayar, Stephane Flibotte, Hong Qian, Susanna Y. Chan, Jennifer Asano, Adrian Ally, Manqiu Cao, Patricia Birch, Mabel Brown-John, Nicole Fernandes, Anne Go, Giulia C. Kennedy, Sylvie Langlois, Patrice Eydoux, J. M. Friedman, Marco A. Marra
• Keywords: BMCBI 2007, Copy Number, SNP Array, SNP Array Data