A very fast and accurate method for calling aberrations in array-CGH data

Autor: Matteo Benelli, Giuseppina Marseglia, Franca Dagna Bricarelli, Genni Nannetti, Federico Zara, Roberta Paravidino, Alberto Magi, Francesca Torricelli
Rok vydání: 2010
Předmět:
Zdroj: Biostatistics. 11:515-518
ISSN: 1468-4357
1465-4644
DOI: 10.1093/biostatistics/kxq008
Popis: 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.
Databáze: OpenAIRE