Evidence map›Paper›PMID 28934930›Full record

ArticleBMC genomics2017

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

Alberto Magi, Tommaso Pippucci, Carlo Sidore

Abstract read
In one paragraph

Article in BMC genomics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

15 citing papers in PubMed.

  1. Review
  2. Full-length transcriptome profiling ofPhysiology and molecular biology of plants : an international journal of functional plant biology · 2024
    Article
  3. Article
  4. Article
  5. Article
  6. Identification of Copy Number Alterations from Next-Generation Sequencing Data.Advances in experimental medicine and biology · 2022
    Article
  7. Article
  8. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Alberto MagiDepartment of Experimental and Clinical Medicine, University of Florence, Largo Brambilla 3, Florence, 50134, Italy. albertomagi@gmail.com.ORCID http://orcid.org/0000-0001-7393-4283
Tommaso PippucciMedical Genetics Unit, Department of Medical and Surgical Sciences, Polyclinic Sant'Orsola-Malpighi, University of Bologna, Via Zamboni 33, Bologna, 40126, Italy.
Carlo SidoreIstituto di Ricerca Genetica e Biomedica (IRGB), Cittadella Universitaria di Cagliari, Monserrato, 09042, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundWe 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.

resultsBy 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 high resolutions. To demonstrate the power of our software we applied it to the analysis Illumina and Pacific Bioscencies data and we compared its performance to other ten state of the art tools.

conclusionAll the analyses we performed demonstrate that XCAVATOR is capable to detect germline and somatic CNVs/CNAs outperforming all the other tools we compared. XCAVATOR is freely available at http://sourceforge.net/projects/xcavator/ .

Indexed as

Whole Genome SequencingDNA Copy Number VariationsGenotyping TechniquesPolymorphism, Single NucleotideSoftwareCNVsHMMWhole-Genome Sequencing

Identifiers

PMID28934930
PMCPMC5609061

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.