Structural variant calling: the long and the short of it

M Mahmoud, N Gobet, DI Cruz-Dávalos, N Mounier… - Genome biology, 2019 - Springer
Recent research into structural variants (SVs) has established their importance to medicine
and molecular biology, elucidating their role in various diseases, regulation of gene …

Structural variation in the sequencing era

SS Ho, AE Urban, RE Mills - Nature Reviews Genetics, 2020 - nature.com
Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …

EagleC: A deep-learning framework for detecting a full range of structural variations from bulk and single-cell contact maps

X Wang, Y Luan, F Yue - Science Advances, 2022 - science.org
The Hi-C technique has been shown to be a promising method to detect structural variations
(SVs) in human genomes. However, algorithms that can use Hi-C data for a full-range SV …

Neuronal DNA double-strand breaks lead to genome structural variations and 3D genome disruption in neurodegeneration

V Dileep, CA Boix, H Mathys, A Marco, GM Welch… - Cell, 2023 - cell.com
Persistent DNA double-strand breaks (DSBs) in neurons are an early pathological hallmark
of neurodegenerative diseases including Alzheimer's disease (AD), with the potential to …

The 3D Genome Browser: a web-based browser for visualizing 3D genome organization and long-range chromatin interactions

Y Wang, F Song, B Zhang, L Zhang, J Xu, D Kuang… - Genome biology, 2018 - Springer
Here, we introduce the 3D Genome Browser, http://3dgenome. org, which allows users to
conveniently explore both their own and over 300 publicly available chromatin interaction …

Genome-wide detection of enhancer-hijacking events from chromatin interaction data in rearranged genomes

X Wang, J Xu, B Zhang, Y Hou, F Song, H Lyu, F Yue - Nature methods, 2021 - nature.com
Recent efforts have shown that structural variations (SVs) can disrupt three-dimensional
genome organization and induce enhancer hijacking, yet no computational tools exist to …

Integrative detection and analysis of structural variation in cancer genomes

JR Dixon, J Xu, V Dileep, Y Zhan, F Song, VT Le… - Nature …, 2018 - nature.com
Structural variants (SVs) can contribute to oncogenesis through a variety of mechanisms.
Despite their importance, the identification of SVs in cancer genomes remains challenging …

Identifying statistically significant chromatin contacts from Hi-C data with FitHiC2

A Kaul, S Bhattacharyya, F Ay - Nature protocols, 2020 - nature.com
Fit-Hi-C is a programming application to compute statistical confidence estimates for Hi-C
contact maps to identify significant chromatin contacts. By fitting a monotonically non …

Hi-C identifies complex genomic rearrangements and TAD-shuffling in developmental diseases

US Melo, R Schöpflin, R Acuna-Hidalgo… - The American Journal of …, 2020 - cell.com
Genome-wide analysis methods, such as array comparative genomic hybridization (CGH)
and whole-genome sequencing (WGS), have greatly advanced the identification of structural …

HiNT: a computational method for detecting copy number variations and translocations from Hi-C data

S Wang, S Lee, C Chu, D Jain, P Kerpedjiev… - Genome biology, 2020 - Springer
The three-dimensional conformation of a genome can be profiled using Hi-C, a technique
that combines chromatin conformation capture with high-throughput sequencing. However …