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XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments.

BMC genomics - 21 Sept 2017

Magi Alberto, Pippucci Tommaso, Sidore Carlo

Abstract excerpt

BACKGROUND: We developed a novel software package, XCAVATOR, for the identification of genomic regions involved in copy number variants/alterations (CNVs/CNAs) from short and long reads whole-genome sequencing experiments. RESULTS: By using simulated and real datasets we showed that our tool, based on read count approach, is capable to predict the boundaries and the absolute number of DNA copies CNVs/CNAs with...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 28934930
DOI: 10.1186/s12864-017-4137-0
PMCID: PMC5609061

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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