Chromatin accessibility profiling by ATAC-seq

FC Grandi, H Modi, L Kampman, MR Corces - Nature protocols, 2022 - nature.com
The assay for transposase-accessible chromatin using sequencing (ATAC-seq) provides a
simple and scalable way to detect the unique chromatin landscape associated with a cell …

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 …

Systematic differences in discovery of genetic effects on gene expression and complex traits

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - Nature Genetics, 2023 - nature.com
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …

Single-cell RNA-seq reveals cell type–specific molecular and genetic associations to lupus

RK Perez, MG Gordon, M Subramaniam, MC Kim… - Science, 2022 - science.org
Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease. Knowledge
of circulating immune cell types and states associated with SLE remains incomplete. We …

Scalable, multimodal profiling of chromatin accessibility, gene expression and protein levels in single cells

EP Mimitou, CA Lareau, KY Chen… - Nature …, 2021 - nature.com
Recent technological advances have enabled massively parallel chromatin profiling with
scATAC-seq (single-cell assay for transposase accessible chromatin by sequencing). Here …

Single-cell eQTL models reveal dynamic T cell state dependence of disease loci

A Nathan, S Asgari, K Ishigaki, C Valencia, T Amariuta… - Nature, 2022 - nature.com
Non-coding genetic variants may cause disease by modulating gene expression. However,
identifying these expression quantitative trait loci (eQTLs) is complicated by differences in …

[HTML][HTML] Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus

DJ Downes, AR Cross, P Hua, N Roberts… - Nature …, 2021 - nature.com
The severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) disease (COVID-19)
pandemic has caused millions of deaths worldwide. Genome-wide association studies …

[HTML][HTML] ArchR is a scalable software package for integrative single-cell chromatin accessibility analysis

JM Granja, MR Corces, SE Pierce, ST Bagdatli… - Nature …, 2021 - nature.com
The advent of single-cell chromatin accessibility profiling has accelerated the ability to map
gene regulatory landscapes but has outpaced the development of scalable software to …

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 …

Pathway paradigms revealed from the genetics of inflammatory bowel disease

DB Graham, RJ Xavier - Nature, 2020 - nature.com
Inflammatory bowel disease (IBD) is a complex genetic disease that is instigated and
amplified by the confluence of multiple genetic and environmental variables that perturb the …