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Article

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

Genome biology - 1 Jan 2013

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, De Bellis Gianluca, Abbate Rosanna, Gensini Gian Franco

Abstract excerpt

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....

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Identifiers

PMID: 24172663
DOI: 10.1186/gb-2013-14-10-r120
PMCID: PMC4053953

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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