Charm is a flexible pipeline to simulate chromosomal rearrangements on Hi-C-like data
Identifying structural variants (SVs) remains a pivotal challenge within genomic studies. The recent advent of chromosome conformation capture (3C) techniques has emerged as a promising avenue for the accurate identification of SVs. However, development and validation of computational methods leveraging 3C data necessitate comprehensive datasets of well-characterized chromosomal rearrangements, which are presently lacking. In this study, we introduce Charm (https://github.com/genomech/Charm): a robust computational framework tailored for Hi-C data simulation. Our findings demonstrate Charm's efficacy in benchmarking both novel and established tools for SV detection. Additionally, we furnish an extensive dataset of simulated Hi-C maps, paving the way for subsequent benchmarking endeavors.
Authors
- Miroslav Nuriddinov (ORCID: https://orcid.org/0000-0002-2417-8263)
- Veniamin Fishman (ORCID: https://orcid.org/0000-0002-5573-3100)
- Polina Belokopytova (ORCID: https://orcid.org/0000-0003-1390-7341)
Institutions
- Novosibirsk State University (RU)
- Sirius University of Science and Technology (RU)
- Institute of Cytology and Genetics (RU)
- AIRI - Artificial Intelligence Research Institute (RU)
Publication Details
- Journal
- NAR Genomics and Bioinformatics
- Published
- 2025-03-29
- DOI
- https://doi.org/10.1093/nargab/lqaf081
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Russian Science Foundation
- Ministry of Science and Higher Education of the Russian Federation