The promise of precision medicine in rheumatology

JM Guthridge, CA Wagner, JA James - Nature medicine, 2022 - nature.com
Systemic autoimmune rheumatic diseases (SARDs) exhibit extensive heterogeneity in
clinical presentation, disease course, and treatment response. Therefore, precision …

[HTML][HTML] 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 …

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 …

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 …

Dendritic cells in systemic lupus erythematosus: from pathogenesis to therapeutic applications

J Liu, X Zhang, X Cao - Journal of Autoimmunity, 2022 - Elsevier
Systemic lupus erythematosus (SLE) is a severe chronic systemic autoimmune disease
caused by complicated interactions among genetic, epigenetic, and immunological factors …

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 …

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 …

DGHNE: network enhancement-based method in identifying disease-causing genes through a heterogeneous biomedical network

B He, K Wang, J Xiang, P Bing, M Tang… - Briefings in …, 2022 - academic.oup.com
The identification of disease-causing genes is critical for mechanistic understanding of
disease etiology and clinical manipulation in disease prevention and treatment. Yet the …

The missing link between genetic association and regulatory function

NJ Connally, S Nazeen, D Lee, H Shi… - Elife, 2022 - elifesciences.org
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …

[HTML][HTML] Pitfalls and opportunities for applying latent variables in single-cell eQTL analyses

A Xue, D Neavin, JE Powell - Genome …, 2023 - genomebiology.biomedcentral.com
Using latent variables in gene expression data can help correct unobserved confounders
and increase statistical power for expression quantitative trait Loci (eQTL) detection. The …