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A very fast and accurate method for calling aberrations in array-CGH data.
Benelli, Matteo; Marseglia, Giuseppina; Nannetti, Genni; Paravidino, Roberta; Zara, Federico; Bricarelli, Franca Dagna; Torricelli, Francesca; Magi, Alberto.
Afiliação
  • Benelli M; Diagnostic Genetic Unit, Careggi Hospital, Azienda Ospedaliera Universitaria Careggi, University of Florence, Florence, Italy. matteo.benelli@gmail.com
Biostatistics ; 11(3): 515-8, 2010 Jul.
Article em En | MEDLINE | ID: mdl-20207682
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.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Análise de Sequência com Séries de Oligonucleotídeos / Hibridização Genômica Comparativa Idioma: En Revista: Biostatistics Ano de publicação: 2010 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Análise de Sequência com Séries de Oligonucleotídeos / Hibridização Genômica Comparativa Idioma: En Revista: Biostatistics Ano de publicação: 2010 Tipo de documento: Article País de afiliação: Itália