Understanding 3D genome organization by multidisciplinary methods

I Jerkovic, G Cavalli - Nature Reviews Molecular Cell Biology, 2021 - nature.com
Understanding how chromatin is folded in the nucleus is fundamental to understanding its
function. Although 3D genome organization has been historically difficult to study owing to a …

Long-range enhancer–promoter contacts in gene expression control

S Schoenfelder, P Fraser - Nature Reviews Genetics, 2019 - nature.com
Spatiotemporal gene expression programmes are orchestrated by transcriptional
enhancers, which are key regulatory DNA elements that engage in physical contacts with …

A structural variation reference for medical and population genetics

RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi… - Nature, 2020 - nature.com
Structural variants (SVs) rearrange large segments of DNA and can have profound
consequences in evolution and human disease,. As national biobanks, disease-association …

Methods for mapping 3D chromosome architecture

R Kempfer, A Pombo - Nature Reviews Genetics, 2020 - nature.com
Determining how chromosomes are positioned and folded within the nucleus is critical to
understanding the role of chromatin topology in gene regulation. Several methods are …

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 …

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 …

The relationship between genome structure and function

AM Oudelaar, DR Higgs - Nature Reviews Genetics, 2021 - nature.com
Precise patterns of gene expression in metazoans are controlled by three classes of
regulatory elements: promoters, enhancers and boundary elements. During differentiation …

The role of 3D genome organization in development and cell differentiation

H Zheng, W Xie - Nature reviews Molecular cell biology, 2019 - nature.com
In eukaryotes, the genome does not exist as a linear molecule but instead is hierarchically
packaged inside the nucleus. This complex genome organization includes multiscale …

Developmental enhancers and chromosome topology

EEM Furlong, M Levine - Science, 2018 - science.org
Developmental enhancers mediate on/off patterns of gene expression in specific cell types
at particular stages during metazoan embryogenesis. They typically integrate multiple …

On the existence and functionality of topologically associating domains

JA Beagan, JE Phillips-Cremins - Nature genetics, 2020 - nature.com
Genomes across a wide range of eukaryotic organisms fold into higher-order chromatin
domains. Topologically associating domains (TADs) were originally discovered empirically …