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 …

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 …

Precise identification of cell states altered in disease using healthy single-cell references

E Dann, AM Cujba, AJ Oliver, KB Meyer… - Nature Genetics, 2023 - nature.com
Joint analysis of single-cell genomics data from diseased tissues and a healthy reference
can reveal altered cell states. We investigate whether integrated collections of data from …

A guide to systems-level immunomics

L Bonaguro, J Schulte-Schrepping, T Ulas… - Nature …, 2022 - nature.com
The immune system is highly complex and distributed throughout an organism, with
hundreds to thousands of cell states existing in parallel with diverse molecular pathways …

Scalable genetic screening for regulatory circuits using compressed Perturb-seq

D Yao, L Binan, J Bezney, B Simonton… - Nature …, 2023 - 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 …

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 …

Dissecting human population variation in single-cell responses to SARS-CoV-2

Y Aquino, A Bisiaux, Z Li, M O'Neill, J Mendoza-Revilla… - Nature, 2023 - nature.com
Humans display substantial interindividual clinical variability after SARS-CoV-2 infection,–,
the genetic and immunological basis of which has begun to be deciphered. However, the …

Limited overlap of eQTLs and GWAS hits due to systematic differences in discovery

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - BioRxiv, 2022 - biorxiv.org
Most signals in genome-wide association studies (GWAS) of complex traits point to
noncoding genetic variants with putative gene regulatory effects. However, currently …