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 …

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 …

Cicero predicts cis-regulatory DNA interactions from single-cell chromatin accessibility data

HA Pliner, JS Packer, JL McFaline-Figueroa… - Molecular cell, 2018 - cell.com
Linking regulatory DNA elements to their target genes, which may be located hundreds of
kilobases away, remains challenging. Here, we introduce Cicero, an algorithm that identifies …

GeneHancer: genome-wide integration of enhancers and target genes in GeneCards

S Fishilevich, R Nudel, N Rappaport, R Hadar… - Database, 2017 - academic.oup.com
A major challenge in understanding gene regulation is the unequivocal identification of
enhancer elements and uncovering their connections to genes. We present GeneHancer, a …

Highly rearranged chromosomes reveal uncoupling between genome topology and gene expression

Y Ghavi-Helm, A Jankowski, S Meiers, RR Viales… - Nature …, 2019 - nature.com
Chromatin topology is intricately linked to gene expression, yet its functional requirement
remains unclear. Here, we comprehensively assessed the interplay between genome …

Lineage-specific genome architecture links enhancers and non-coding disease variants to target gene promoters

BM Javierre, OS Burren, SP Wilder, R Kreuzhuber… - Cell, 2016 - cell.com
Long-range interactions between regulatory elements and gene promoters play key roles in
transcriptional regulation. The vast majority of interactions are uncharted, constituting a …

Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases

EM Weeks, JC Ulirsch, NY Cheng, BL Trippe, RS Fine… - Nature …, 2023 - nature.com
Genome-wide association studies (GWASs) are a valuable tool for understanding the
biology of complex human traits and diseases, but associated variants rarely point directly to …

[HTML][HTML] HiCUP: pipeline for mapping and processing Hi-C data

S Wingett, P Ewels, M Furlan-Magaril, T Nagano… - …, 2015 - ncbi.nlm.nih.gov
HiCUP is a pipeline for processing sequence data generated by Hi-C and Capture Hi-C
(CHi-C) experiments, which are techniques used to investigate three-dimensional genomic …

Genome-wide mapping and analysis of chromosome architecture

AD Schmitt, M Hu, B Ren - Nature reviews Molecular cell biology, 2016 - nature.com
Chromosomes of eukaryotes adopt highly dynamic and complex hierarchical structures in
the nucleus. The three-dimensional (3D) organization of chromosomes profoundly affects …

Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes

I Miguel-Escalada, S Bonàs-Guarch, I Cebola… - Nature …, 2019 - nature.com
Genetic studies promise to provide insight into the molecular mechanisms underlying type 2
diabetes (T2D). Variants associated with T2D are often located in tissue-specific enhancer …