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 …

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 …

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 …

Clonal replacement of tumor-specific T cells following PD-1 blockade

KE Yost, AT Satpathy, DK Wells, Y Qi, C Wang… - Nature medicine, 2019 - nature.com
Immunotherapies that block inhibitory checkpoint receptors on T cells have transformed the
clinical care of patients with cancer. However, whether the T cell response to checkpoint …

[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 …

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 …

RNA-Seq signatures normalized by mRNA abundance allow absolute deconvolution of human immune cell types

G Monaco, B Lee, W Xu, S Mustafah, YY Hwang… - Cell reports, 2019 - cell.com
The molecular characterization of immune subsets is important for designing effective
strategies to understand and treat diseases. We characterized 29 immune cell types within …

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 …

From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases

E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …