Characterizing cis-regulatory elements using single-cell epigenomics

S Preissl, KJ Gaulton, B Ren - Nature Reviews Genetics, 2023 - nature.com
Cell type-specific gene expression patterns and dynamics during development or in disease
are controlled by cis-regulatory elements (CREs), such as promoters and enhancers …

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 …

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 …

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 …

In situ genome sequencing resolves DNA sequence and structure in intact biological samples

AC Payne, ZD Chiang, PL Reginato, SM Mangiameli… - Science, 2021 - science.org
INTRODUCTION Genomes are spatially organized across length scales from single base
pairs to whole chromosomes. This organization is thought to regulate gene expression and …

Transcription factors and 3D genome conformation in cell-fate decisions

R Stadhouders, GJ Filion, T Graf - Nature, 2019 - nature.com
How cells adopt different identities has long fascinated biologists. Signal transduction in
response to environmental cues results in the activation of transcription factors that …

Towards a comprehensive catalogue of validated and target-linked human enhancers

M Gasperini, JM Tome, J Shendure - Nature Reviews Genetics, 2020 - nature.com
The human gene catalogue is essentially complete, but we lack an equivalently vetted
inventory of bona fide human enhancers. Hundreds of thousands of candidate enhancers …

Principles of genome folding into topologically associating domains

Q Szabo, F Bantignies, G Cavalli - Science advances, 2019 - science.org
Understanding the mechanisms that underlie chromosome folding within cell nuclei is
essential to determine the relationship between genome structure and function. The recent …

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

D Monk, DJG Mackay, T Eggermann, ER Maher… - Nature Reviews …, 2019 - nature.com
Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset
of genes, is required for normal development, and its disruption leads to human disease …