figshare
Browse

VizCNV v4.2.4

Version 3 2025-05-09, 05:03
Version 2 2024-09-03, 03:43
Version 1 2024-08-18, 20:22
software
posted on 2025-05-09, 05:03 authored by Haowei DuHaowei Du, Ming Yin Lun, Claudia MB Carvalho, James R Lupski

This dataset includes the release version of VizCNV, a computational tool designed for the comprehensive analysis and visualization of copy number variations (CNVs) using short-read genome sequencing (sr-GS) data. VizCNV offers advanced features for inspecting CNV calls through various data signal sources, including read depth, phased B-allele frequency, and benchmarking signals from other structural variant (SV) calling methods. The tool is particularly suited for analyzing chromosomal abnormalities, gene exonic CNVs, and non-coding regulatory regions.

In addition to the VizCNV tool, this release includes relevant data from the 1000 Genomes Project, preprocessed and ready for use in testing and validation. The included dataset facilitates the evaluation of VizCNV's performance in identifying and visualizing CNVs within a genome, offering users a practical framework for testing the tool's features.

History

Usage metrics

    Licence

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC