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

Abstract

AbstractIdentifying 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.