Evidence map›Paper›PMID 39614138›Full record

ArticleBMC genomics2024

DeCGR: an interactive toolkit for deciphering complex genomic rearrangements from Hi-C data.

Junping Li, Minghui Sun, Yusen Ye, Lin Gao

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Article in BMC genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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4 authors.

Junping LiDepartment of Computer Science, School of Computer Science and Technology, Xidian University, Xi'an, Shaanxi, 710071, China.
Minghui SunDepartment of Computer Science, School of Computer Science and Technology, Xidian University, Xi'an, Shaanxi, 710071, China.
Yusen YeDepartment of Computer Science, School of Computer Science and Technology, Xidian University, Xi'an, Shaanxi, 710071, China.
Lin GaoDepartment of Computer Science, School of Computer Science and Technology, Xidian University, Xi'an, Shaanxi, 710071, China. lgao@mail.xidian.edu.cn.

Funding

National Natural Science Foundation of China 62002275National Natural Science Foundation of China 62132015
6 · The paper itself

Abstract

backgroundComplex genomic rearrangements (CGRs) drive the restructuring of chromatin architecture, resulting in significant interactions among rearranged fragments, visible as anomalous interaction blocks in chromatin contact maps generated by chromosome conformation capture technologies such as Hi-C. These blocks not only offer the orientation and genome coordinates of rearranged fragments but also filter out false positive CGRs, thereby facilitating CGR assembly. Despite this, there is a lack of interactive graphical software tailored for this purpose.

resultsWe present DeCGR, a user-friendly Python toolbox specifically designed for deciphering CGRs in Hi-C data. DeCGR consists of four independent execution components. The Breakpoint Filtering module identifies and filters simple rearrangements, providing the coordinates of rearrangement breakpoints. The Fragment Assembly module automatically assembles CGRs and visualizes the assembly process, facilitating the direct association between anomalous interaction blocks and CGR events. The Validation CGRs module verifies the completeness and accuracy of CGRs by generating the Hi-C map with CGRs through a simulation process and examines the difference from the original Hi-C maps. This module displays both the original and the simulated Hi-C map with highlighted rearranged fragment boundaries for rapid review to assess the CGRs. Finally, the Reconstruct Hi-C Map module provides the reconstructed Hi-C map based on the determined CGRs, allowing users to directly observe the impact of rearrangements on chromatin structure.

conclusionsDeCGR is designed specifically for biologists who aim to explore CGRs from Hi-C data. It provides a validation module to ensure the completeness and correctness of CGRs. Additionally, it allows users to generate CGR assembly results and reconstruct the Hi-C map with just one click. DeCGR provides intuitive visualization results for each module, allowing users to easily associate CGRs with Hi-C maps. DeCGR is operable through a user-friendly graphical interface. Source codes are freely available at https://github.com/GaoLabXDU/DeCGR .

Indexed as

SoftwareChromatinGene RearrangementGenomicsHumansUser-Computer InterfaceChromatin3D genomeComplex genomic rearrangementsHi-C

Identifiers

PMID39614138
PMCPMC11606078

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.