Ontology highlight
ABSTRACT:
SUBMITTER: Magi A
PROVIDER: S-EPMC4053953 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Magi Alberto A Tattini Lorenzo L Cifola Ingrid I D'Aurizio Romina R Benelli Matteo M Mangano Eleonora E Battaglia Cristina C Bonora Elena E Kurg Ants A Seri Marco M Magini Pamela P Giusti Betti B Romeo Giovanni G Pippucci Tommaso T De Bellis Gianluca G Abbate Rosanna R Gensini Gian Franco GF
Genome biology 20130101 10
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 ...[more]