title: Multiple samples aCGH analysis for rare CNVs detection.
abstract: BACKGROUND
  DNA copy number variations (CNV) constitute an important source of genetic variability. The standard method used for CNV detection is array comparative genomic hybridization (aCGH).
  
  
  RESULTS
  We propose a novel multiple sample aCGH analysis methodology aiming in rare CNVs detection. In contrast to the majority of previous approaches, which deal with cancer datasets, we focus on constitutional genomic abnormalities identified in a diverse spectrum of diseases in human. 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.
  
  
  CONCLUSIONS
  Thanks to the additional information obtained from multiple samples, we could efficiently detect significant segments corresponding to rare CNVs responsible for pathogenic changes. The robust statistical framework applied in our method enables to eliminate the influence of widespread technical artifact termed 'waves'.
authors.affiliation: Institute of Informatics, University of Warsaw, Warsaw, Poland. aniag@mimuw.edu.pl.
authors.forename: Maciej
authors.initials: M
authors.lastname: Sykulski
authors.forename: Tomasz
authors.initials: T
authors.lastname: Gambin
authors.forename: Magdalena
authors.initials: M
authors.lastname: Bartnik
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Derwińska
authors.forename: Barbara
authors.initials: B
authors.lastname: Wiśniowiecka-Kowalnik
authors.forename: Paweł
authors.initials: P
authors.lastname: Stankiewicz
authors.forename: Anna
authors.initials: A
authors.lastname: Gambin