title: A very fast and accurate method for calling 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 standard workflow of the aCGH data analysis consists of 2 steps: detecting the boundaries of the regions of changed copy number by means of a segmentation algorithm (break point identification) and then labeling each region as loss, neutral, or gain with a probabilistic framework (calling procedure). In this paper, we introduce a novel calling procedure based on a mixture of truncated normal distributions, named FastCall, that aims to give aberration probabilities to segmented aCGH data in a very fast and accurate way. Both on synthetic and real aCGH data, FastCall obtains excellent performances in terms of classification accuracy and running time.
authors.affiliation: Diagnostic Genetic Unit, Careggi Hospital, Azienda Ospedaliera Universitaria Careggi, University of Florence, Florence, Italy. matteo.benelli@gmail.com
authors.forename: Matteo
authors.initials: M
authors.lastname: Benelli
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Marseglia
authors.forename: Genni
authors.initials: G
authors.lastname: Nannetti
authors.forename: Roberta
authors.initials: R
authors.lastname: Paravidino
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
authors.forename: Franca Dagna
authors.initials: FD
authors.lastname: Bricarelli
authors.forename: Francesca
authors.initials: F
authors.lastname: Torricelli
authors.forename: Alberto
authors.initials: A
authors.lastname: Magi
mesh_terms: D000465:Algorithms; D055028:Comparative Genomic Hybridization / Q000379:methods*; D003198:Computer Simulation; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*