http://www.cnr.it/ontology/cnr/individuo/prodotto/ID280034

EXCAVATOR: Detecting copy number variants from whole-exome sequencing data (Articolo in rivista)

Type

Label

EXCAVATOR: Detecting copy number variants from whole-exome sequencing data (Articolo in rivista) (literal)

Anno

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

Alternative label

Alberto Magi, Lorenzo Tattini, Ingrid Cifola, Romina D'Aurizio, Matteo Benelli, Eleonora Mangano, Cristina Battaglia, Elena Bonora, Ants Kurg, Marco Seri, Pamela Magini, Betti Giusti, Giovanni Romeo, Tommaso Pippucci, Gianluca De Bellis, Rosanna Abbate,Gian Franco Gensini (2013)
EXCAVATOR: Detecting copy number variants from whole-exome sequencing data
in Genome biology (Online)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Alberto Magi, Lorenzo Tattini, Ingrid Cifola, Romina D'Aurizio, Matteo Benelli, Eleonora Mangano, Cristina Battaglia, Elena Bonora, Ants Kurg, Marco Seri, Pamela Magini, Betti Giusti, Giovanni Romeo, Tommaso Pippucci, Gianluca De Bellis, Rosanna Abbate,Gian Franco Gensini (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

http://www.scopus.com/inward/record.url?eid=2-s2.0-84886541754&partnerID=q2rCbXpz (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

Rivista

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

Note

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

Laboratory of Molecular Genetics, G. Gaslini Institute, Genoa, Italy; Laboratory of Integrative Systems Medicine (LISM), Institute of Informatics and Telematics and Institute of Clinical Physiology, National Research Council, Pisa, Italy; Diagnostic Genetic Unit, Careggi Hospital, Florence, Italy; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale (BIOMETRA), University of Milan, Milan, Italy; Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia; Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy; Institute for Biomedical Technologies, National Research Council, Segrate, Milano, Italy; Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy (literal)

Titolo

EXCAVATOR: Detecting copy number variants from whole-exome sequencing data (literal)

Abstract

We developed a novel software tool, EXCAVATOR, for the detection of copy number variants (CNVs) from whole-exome sequencing data. EXCAVATOR combines a three-step normalization procedure with a novel heterogeneous hidden Markov model algorithm and a calling method that classifies genomic regions into five copy number states. We validate EXCAVATOR on three datasets and compare the results with three other methods. These analyses show that EXCAVATOR outperforms the other methods and is therefore a valuable tool for the investigation of CNVs in largescale projects, as well as in clinical research and diagnostics. EXCAVATOR is freely available at http://sourceforge.net/projects/excavatortool/. © 2013 Magi et al.; licensee BioMed Central Ltd. (literal)

Prodotto di