title: A shifting level model algorithm that identifies aberrations in array-CGH data.
abstract: Array comparative genomic hybridization (aCGH) is a microarray technology that allows one to detect and map genomic alterations. The goal of aCGH analysis is to identify the boundaries of the regions where the number of DNA copies changes (breakpoint identification) and then to label each region as loss, neutral, or gain (calling). In this paper, we introduce a new algorithm, based on the shifting level model (SLM), with the aim of locating regions with different means of the log(2) ratio in genomic profiles obtained from aCGH data. We combine the SLM algorithm with the CGHcall calling procedure and compare their performances with 5 state-of-the-art methods. When dealing with synthetic data, our method outperforms the other 5 algorithms in detecting the change in the number of DNA copies in the most challenging situations. For real aCGH data, SLM is able to locate all the cytogenetically mapped aberrations giving a smaller number of false-positive breakpoints than the compared methods. The application of the SLM algorithm is not limited to aCGH data. Our approach can also be used for the analysis of several emerging experimental strategies such as high-resolution tiling array.
authors: Diagnostic Genetic Unit, Careggi Hospital, AOUC, University of Florence, Florence, Italy. albertomagi@gmail.com
authors: Alberto
authors: A
authors: Magi
authors: Matteo
authors: M
authors: Benelli
authors: Giuseppina
authors: G
authors: Marseglia
authors: Genni
authors: G
authors: Nannetti
authors: Maria Rosaria
authors: MR
authors: Scordo
authors: Francesca
authors: F
authors: Torricelli
mesh_terms: D000465:Algorithms; D000704:Analysis of Variance; D000782:Aneuploidy; D019540:Area Under Curve; D001699:Biometry / Q000379:methods*; D002872:Chromosome Deletion; D002875:Chromosomes / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000706:statistics & numerical data*; D003198:Computer Simulation; D005189:False Positive Reactions; D018628:Gene Dosage / Q000235:genetics; D005909:Glioblastoma / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008390:Markov Chains; D015233:Models, Statistical; D020411:Oligonucleotide Array Sequence Analysis / Q000706:statistics & numerical data*; D012372:ROC Curve; D012984:Software