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 …

A brief history of human disease genetics

M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

A Mahajan, CN Spracklen, W Zhang, MCY Ng… - Nature …, 2022 - nature.com
We assembled an ancestrally diverse collection of genome-wide association studies
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …

[PDF][PDF] 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 …

Interpreting type 1 diabetes risk with genetics and single-cell epigenomics

J Chiou, RJ Geusz, ML Okino, JY Han, M Miller… - Nature, 2021 - nature.com
Genetic risk variants that have been identified in genome-wide association studies of
complex diseases are primarily non-coding. Translating these risk variants into mechanistic …

Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk

AW Turner, SS Hu, JV Mosquera, WF Ma… - Nature …, 2022 - nature.com
Coronary artery disease (CAD) is a complex inflammatory disease involving genetic
influences across cell types. Genome-wide association studies have identified over 200 loci …

Single cell regulatory landscape of the mouse kidney highlights cellular differentiation programs and disease targets

Z Miao, MS Balzer, Z Ma, H Liu, J Wu… - Nature …, 2021 - nature.com
Determining the epigenetic program that generates unique cell types in the kidney is critical
for understanding cell-type heterogeneity during tissue homeostasis and injury response …

Single-nucleus multi-omics of human stem cell-derived islets identifies deficiencies in lineage specification

P Augsornworawat, NJ Hogrebe, M Ishahak… - Nature Cell …, 2023 - nature.com
Insulin-producing β cells created from human pluripotent stem cells have potential as a
therapy for insulin-dependent diabetes, but human pluripotent stem cell-derived islets (SC …

Insights from multi-omics integration in complex disease primary tissues

P Kreitmaier, G Katsoula, E Zeggini - Trends in Genetics, 2023 - cell.com
Genome-wide association studies (GWAS) have provided insights into the genetic basis of
complex diseases. In the next step, integrative multi-omics approaches can characterize …

Integrating genetics with single-cell multiomic measurements across disease states identifies mechanisms of beta cell dysfunction in type 2 diabetes

G Wang, J Chiou, C Zeng, M Miller, I Matta, JY Han… - Nature …, 2023 - nature.com
Dysfunctional pancreatic islet beta cells are a hallmark of type 2 diabetes (T2D), but a
comprehensive understanding of the underlying mechanisms, including gene dysregulation …