Voltar
Artigo Acesso aberto Revisado por pares
BIBTEX RIS

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

2013; BioMed Central; Volume: 14; Issue: 10 Linguagem: Inglês

10.1186/gb-2013-14-10-r120

ISSN

1474-760X

Autores

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, G. Cara Romeo, Tommaso Pippucci, Gianluca De Bellis, Rosanna Abbate, Gian Franco Gensini,

Tópico(s)

Cancer Genomics and Diagnostics

Resumo

Abstract 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/ .

Referência(s)