Adipose tissue at single-cell resolution

B Maniyadath, Q Zhang, RK Gupta, S Mandrup - Cell metabolism, 2023 - cell.com
Adipose tissue exhibits remarkable plasticity with capacity to change in size and cellular
composition under physiological and pathophysiological conditions. The emergence of …

[HTML][HTML] Using genetic association data to guide drug discovery and development: review of methods and applications

S Burgess, AM Mason, AJ Grant, EAW Slob… - The American Journal of …, 2023 - cell.com
Evidence on the validity of drug targets from randomized trials is reliable but typically
expensive and slow to obtain. In contrast, evidence from conventional observational …

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 …

Cell-type-specific and disease-associated expression quantitative trait loci in the human lung

HM Natri, CB Del Azodi, L Peter, CJ Taylor, S Chugh… - Nature Genetics, 2024 - nature.com
Common genetic variants confer substantial risk for chronic lung diseases, including
pulmonary fibrosis. Defining the genetic control of gene expression in a cell-type-specific …

Inferring gene regulatory networks from single-cell multiome data using atlas-scale external data

Q Yuan, Z Duren - Nature Biotechnology, 2024 - nature.com
Existing methods for gene regulatory network (GRN) inference rely on gene expression data
alone or on lower resolution bulk data. Despite the recent integration of chromatin …

Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis

SN Stacey, F Zink, GH Halldorsson, L Stefansdottir… - Nature Genetics, 2023 - nature.com
Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is
derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of …

An immune cell atlas reveals the dynamics of human macrophage specification during prenatal development

Z Wang, Z Wu, H Wang, R Feng, G Wang, M Li… - Cell, 2023 - cell.com
Macrophages are heterogeneous and play critical roles in development and disease, but
their diversity, function, and specification remain inadequately understood during human …

Toward a foundation model of causal cell and tissue biology with a Perturbation Cell and Tissue Atlas

JE Rood, A Hupalowska, A Regev - Cell, 2024 - cell.com
Comprehensively charting the biologically causal circuits that govern the phenotypic space
of human cells has often been viewed as an insurmountable challenge. However, in the last …

Molecular quantitative trait loci

F Aguet, K Alasoo, YI Li, A Battle, HK Im… - Nature reviews …, 2023 - nature.com
Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …

Scalable genetic screening for regulatory circuits using compressed Perturb-seq

D Yao, L Binan, J Bezney, B Simonton… - Nature …, 2024 - nature.com
Pooled CRISPR screens with single-cell RNA sequencing readout (Perturb-seq) have
emerged as a key technique in functional genomics, but they are limited in scale by cost and …