A Flexible and Open-Source Tool for Genetic Variant Annotation

Andrea Bombarda, Matteo Bellini, Maria Iascone, Domenico Fabio Savo

2025

Abstract

Advances in genomic research have significantly enhanced our understanding of the genetic factors influencing human health. A key output of this research are VCF (Variant Call Format) files, which document genetic variations detected through DNA sequencing. These files, however, provide limited information, making it challenging to interpret the biological significance of the variants without additional data. Annotation, the process of enriching VCF files with information from publicly available biomedical datasets, is essential for facilitating variant interpretation in research. In this paper, we present VCFAnnotator, a tool developed to adapt ANNOVAR software used in genetic research, enabling the annotation of entire directories with a single command and facilitating the use of any relevant external database. Additionally, VCFAnnotator offers the ability to scrape the various websites of the biomedical databases in use, ensuring that the researchers remain informed of any updates.

Paper Citation

in Harvard Style

Bombarda A., Bellini M., Iascone M. and Savo D. (2025). A Flexible and Open-Source Tool for Genetic Variant Annotation. In Proceedings of the 18th International Joint Conference on Biomedical Engineering Systems and Technologies - Volume 2: HEALTHINF; ISBN 978-989-758-731-3, SciTePress, pages 406-413. DOI: 10.5220/0013111600003911

in Bibtex Style

@conference{healthinf25,
author={Andrea Bombarda and Matteo Bellini and Maria Iascone and Domenico Savo},
title={A Flexible and Open-Source Tool for Genetic Variant Annotation},
booktitle={Proceedings of the 18th International Joint Conference on Biomedical Engineering Systems and Technologies - Volume 2: HEALTHINF},
year={2025},
pages={406-413},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0013111600003911},
isbn={978-989-758-731-3},
}

in EndNote Style

TY - CONF

JO - Proceedings of the 18th International Joint Conference on Biomedical Engineering Systems and Technologies - Volume 2: HEALTHINF
TI - A Flexible and Open-Source Tool for Genetic Variant Annotation
SN - 978-989-758-731-3
AU - Bombarda A.
AU - Bellini M.
AU - Iascone M.
AU - Savo D.
PY - 2025
SP - 406
EP - 413
DO - 10.5220/0013111600003911
PB - SciTePress