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

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...

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Hauptverfasser: Magi, Alberto, Tattini, Lorenzo, Cifola, Ingrid, D’Aurizio, Romina, Benelli, Matteo, Mangano, Eleonora, Battaglia, Cristina, Bonora, Elena, Kurg, Ants, Seri, Marco, Magini, Pamela, Giusti, Betti, Romeo, Giovanni, Pippucci, Tommaso, Bellis, Gianluca De, Abbate, Rosanna, Gensini, Gian Franco
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2013
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Method
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4053953/
https://ncbi.nlm.nih.gov/pubmed/24172663
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/gb-2013-14-10-r120
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