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.

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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

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article

Charm is a flexible pipeline to simulate chromosomal rearrangements on Hi-C-like data

Miroslav Nuriddinov, Veniamin Fishman, Polina Belokopytova
NAR Genomics and Bioinformatics
Genomic variations and chromosomal abnormalities
article

Charm is a flexible pipeline to simulate chromosomal rearrangements on Hi-C-like data

Miroslav Nuriddinov, Veniamin Fishman, Polina Belokopytova
article en

Abstract

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.

NAR Genomics and BioinformaticsVol. 7(2)
Novosibirsk State University (RU), Sirius University of Science and Technology (RU), Institute of Cytology and Genetics (RU), AIRI - Artificial Intelligence Research Institute (RU)
Russian Science Foundation, Ministry of Science and Higher Education of the Russian Federation
Openalex Percentile: Top 82%
Genomic variations and chromosomal abnormalities
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Charm is a flexible pipeline to simulate chromosomal rearrangements on Hi-C-like data — Miroslav Nuriddinov, Veniamin Fishman, et al. · NAR Genomics and Bioinformatics (2025) | TGRS Research Map | TGRS