DNA methylation in mammalian development and disease

ZD Smith, S Hetzel, A Meissner - Nature Reviews Genetics, 2024‏ - nature.com
The DNA methylation field has matured from a phase of discovery and genomic
characterization to one seeking deeper functional understanding of how this modification …

The 4D nucleome project

J Dekker, AS Belmont, M Guttman, VO Leshyk, JT Lis… - Nature, 2017‏ - nature.com
Abstract The 4D Nucleome Network aims to develop and apply approaches to map the
structure and dynamics of the human and mouse genomes in space and time with the goal …

Single-molecule genome-wide mutation profiles of cell-free DNA for non-invasive detection of cancer

DC Bruhm, D Mathios, ZH Foda, AV Annapragada… - Nature …, 2023‏ - nature.com
Somatic mutations are a hallmark of tumorigenesis and may be useful for non-invasive
diagnosis of cancer. We analyzed whole-genome sequencing data from 2,511 individuals in …

MutationalPatterns: comprehensive genome-wide analysis of mutational processes

F Blokzijl, R Janssen, R Van Boxtel, E Cuppen - Genome medicine, 2018‏ - Springer
Background Base substitution catalogues represent historical records of mutational
processes that have been active in a cell. Such processes can be distinguished by various …

Single-cell chromatin accessibility reveals principles of regulatory variation

JD Buenrostro, B Wu, UM Litzenburger, D Ruff… - Nature, 2015‏ - nature.com
Cell-to-cell variation is a universal feature of life that affects a wide range of biological
phenomena, from developmental plasticity, to tumour heterogeneity. Although recent …

High-throughput sequencing technologies

JA Reuter, DV Spacek, MP Snyder - Molecular cell, 2015‏ - cell.com
The human genome sequence has profoundly altered our understanding of biology, human
diversity, and disease. The path from the first draft sequence to our nascent era of personal …

Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer

J Drost, R Van Boxtel, F Blokzijl, T Mizutani, N Sasaki… - Science, 2017‏ - science.org
Mutational processes underlie cancer initiation and progression. Signatures of these
processes in cancer genomes may explain cancer etiology and could hold diagnostic and …

The 4D Nucleome Data Portal as a resource for searching and visualizing curated nucleomics data

SB Reiff, AJ Schroeder, K Kırlı, A Cosolo… - Nature …, 2022‏ - nature.com
Abstract The 4D Nucleome (4DN) Network aims to elucidate the complex structure and
organization of chromosomes in the nucleus and the impact of their disruption in disease …

Intragenic origins due to short G1 phases underlie oncogene-induced DNA replication stress

M Macheret, TD Halazonetis - Nature, 2018‏ - nature.com
Oncogene-induced DNA replication stress contributes critically to the genomic instability that
is present in cancer,,,. However, elucidating how oncogenes deregulate DNA replication has …

Map** 3D genome organization relative to nuclear compartments using TSA-Seq as a cytological ruler

Y Chen, Y Zhang, Y Wang, L Zhang… - Journal of Cell …, 2018‏ - rupress.org
While nuclear compartmentalization is an essential feature of three-dimensional genome
organization, no genomic method exists for measuring chromosome distances to defined …