CNVviso: Visualisation Solution for Copy Number Variation Data from Ultra-Low Coverage Whole-Genome Sequencing in Preimplantation Genetic Testing

Background: CNVviso is a web-based NGS data visualization tool designed to be userfriendly for medical researchers who desire visualization-based analysis of large amounts of data with no-code technology. Objective: Unlike small tools that require extensive programming skills, CNVviso is designed to minimize hard coding and repetitive operations for ultra-low coverage whole-genome sequencing data from preimplantation genetic testing. Methods: CNVviso was completely programmed and developed based on the R programming language and Shiny framework. CNVviso source code is available for download under the MIT Licence from https://github.com/Anegin24/CNVviso. Result: The execution architecture of CNVviso allows users to input CNV data, which is then automatically visualized as graphs. Conclusion: The charts display output of CNVviso are lively and interactive, enabling users to exploit the information effectively. The tool also provides tabular results containing aggregated information.

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Publication Details

Journal
Current Bioinformatics
Published
2024-12-24
DOI
https://doi.org/10.2174/0115748936340523241113051828
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
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article

CNVviso: Visualisation Solution for Copy Number Variation Data from Ultra-Low Coverage Whole-Genome Sequencing in Preimplantation Genetic Testing

Hoi Le Thi, Tri Quang, D.-T. Pham, An Nguyen Huu et al.
Current Bioinformatics
Prenatal Screening and Diagnostics
article

CNVviso: Visualisation Solution for Copy Number Variation Data from Ultra-Low Coverage Whole-Genome Sequencing in Preimplantation Genetic Testing

Hoi Le Thi, Tri Quang, D.-T. Pham, An Nguyen Huu, Nhung Trinh Thi Hong, Huong Bui Bich
article en

Abstract

Background: CNVviso is a web-based NGS data visualization tool designed to be userfriendly for medical researchers who desire visualization-based analysis of large amounts of data with no-code technology. Objective: Unlike small tools that require extensive programming skills, CNVviso is designed to minimize hard coding and repetitive operations for ultra-low coverage whole-genome sequencing data from preimplantation genetic testing. Methods: CNVviso was completely programmed and developed based on the R programming language and Shiny framework. CNVviso source code is available for download under the MIT Licence from https://github.com/Anegin24/CNVviso. Result: The execution architecture of CNVviso allows users to input CNV data, which is then automatically visualized as graphs. Conclusion: The charts display output of CNVviso are lively and interactive, enabling users to exploit the information effectively. The tool also provides tabular results containing aggregated information.

Current BioinformaticsVol. 21(1)
Pham Ngoc Thach University of Medicine (VN), Hanoi Medical University (VN)
Quality Education
Openalex Percentile: Top 63%
Prenatal Screening and Diagnostics
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CNVviso: Visualisation Solution for Copy Number Variation Data from Ultra-Low Coverage Whole-Genome Sequencing in Preimplantation Genetic Testing — Hoi Le Thi, Tri Quang, et al. · Current Bioinformatics (2024) | TGRS Research Map | TGRS