Gene regulatory network inference in the era of single-cell multi-omics

P Badia-i-Mompel, L Wessels, S Müller-Dott… - Nature Reviews …, 2023 - nature.com
The interplay between chromatin, transcription factors and genes generates complex
regulatory circuits that can be represented as gene regulatory networks (GRNs). The study …

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 …

Evolutionary constraint and innovation across hundreds of placental mammals

MJ Christmas, IM Kaplow, DP Genereux, MX Dong… - Science, 2023 - science.org
Zoonomia is the largest comparative genomics resource for mammals produced to date. By
aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect …

[HTML][HTML] A single-cell atlas of chromatin accessibility in the human genome

K Zhang, JD Hocker, M Miller, X Hou, J Chiou… - Cell, 2021 - cell.com
Current catalogs of regulatory sequences in the human genome are still incomplete and lack
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …

Complementary Alu sequences mediate enhancer–promoter selectivity

L Liang, C Cao, L Ji, Z Cai, D Wang, R Ye, J Chen… - Nature, 2023 - nature.com
Enhancers determine spatiotemporal gene expression programs by engaging with long-
range promoters,,–. However, it remains unknown how enhancers find their cognate …

Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease

H Liu, T Doke, D Guo, X Sheng, Z Ma, J Park, HMT Vy… - Nature …, 2022 - nature.com
More than 800 million people suffer from kidney disease, yet the mechanism of kidney
dysfunction is poorly understood. In the present study, we define the genetic association with …

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

S Gazal, O Weissbrod, F Hormozdiari, KK Dey… - Nature Genetics, 2022 - nature.com
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …

[HTML][HTML] Multi-omics profiling for health

M Babu, M Snyder - Molecular & Cellular Proteomics, 2023 - ASBMB
The world has witnessed a steady rise in both non-infectious and infectious chronic
diseases, prompting a cross-disciplinary approach to understand and treating disease …

Single-nucleus multiregion transcriptomic analysis of brain vasculature in Alzheimer's disease

N Sun, LA Akay, MH Murdock, Y Park… - Nature …, 2023 - nature.com
Cerebrovascular dysregulation is a hallmark of Alzheimer's disease (AD), but the changes
that occur in specific cell types have not been fully characterized. Here, we profile single …

[HTML][HTML] A sequence-based global map of regulatory activity for deciphering human genetics

KM Chen, AK Wong, OG Troyanskaya, J Zhou - Nature genetics, 2022 - nature.com
Epigenomic profiling has enabled large-scale identification of regulatory elements, yet we
still lack a systematic mapping from any sequence or variant to regulatory activities. We …