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.

A very fast and accurate method for calling aberrations in array-CGH data / M. Benelli;G. Marseglia;G. Nannetti;R. Paravidino;F. Zara;F. D. Bricarelli;F. Torricelli;A. Magi. - In: BIOSTATISTICS. - ISSN 1465-4644. - STAMPA. - 11:(2010), pp. 515-518. [10.1093/biostatistics/kxq008]

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

BENELLI, MATTEO;MARSEGLIA, GIUSEPPINA;TORRICELLI, FRANCESCA;MAGI, ALBERTO
2010

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.
2010
11
515
518
M. Benelli;G. Marseglia;G. Nannetti;R. Paravidino;F. Zara;F. D. Bricarelli;F. Torricelli;A. Magi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/430461
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