Multiple samples aCGH analysis for rare CNVs detection
Maciej Sykulski , Tomasz Gambin , Magdalena Bartnik , Katarzyna Derwińska , Barbara Wiśniowiecka-Kowalnik , Paweł Stankiewicz , Anna Gambin
AbstractBackground: 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'.
|Journal series||Journal of Clinical Bioinformatics, ISSN 2043-9113|
|Publication size in sheets||0.5|
|Score|| = 0.0, 27-08-2020, ArticleFromJournal|
= 0.0, 27-08-2020, ArticleFromJournal
|Publication indicators||= 0; = 2; = 6.0; : 2013 = 0.782|
|Citation count*||6 (2020-08-30)|
* presented citation count is obtained through Internet information analysis and it is close to the number calculated by the Publish or Perish system.