Efficient Multiple Samples aCGH Analysis for Rare CNVs Detection

Abstract-We propose a novel multiple sample aCGH analysis methodology aiming in rare Copy-Number Variations (CNVs) detection. Our method is tested on exon targeted aCGH array of 366 patients affected with developmental delay/intellectual disability, epilepsy, or autism. The proposed algorithms can be applied as a post-processing filtering to any given segmentation method. Thanks to the additional information obtained from multiple samples, we could efficiently detect significant segments corresponding to rare CNVs responsible for pathogenic changes. More detailed description of the method is available in Supplementary Materials at: http://bioputer.mimuw.edu.pl/acgh.