AI-powered therapeutic target discovery

FW Pun, IV Ozerov, A Zhavoronkov - Trends in pharmacological sciences, 2023 - cell.com
Disease modeling and target identification are the most crucial initial steps in drug
discovery, and influence the probability of success at every step of drug development …

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 …

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 …

Current challenges in understanding the role of enhancers in disease

JB Zaugg, P Sahlén, R Andersson… - Nature structural & …, 2022 - nature.com
Enhancers play a central role in the spatiotemporal control of gene expression and tend to
work in a cell-type-specific manner. In addition, they are suggested to be major contributors …

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 …

GWAS Atlas: an updated knowledgebase integrating more curated associations in plants and animals

X Liu, D Tian, C Li, B Tang, Z Wang… - Nucleic Acids …, 2023 - academic.oup.com
Abstract GWAS Atlas (https://ngdc. cncb. ac. cn/gwas/) is a manually curated resource of
genome-wide genotype-to-phenotype associations for a wide range of species. Here, we …

Genetics of multiple sclerosis: lessons from polygenicity

A Goris, M Vandebergh, JL McCauley… - The Lancet …, 2022 - thelancet.com
Large-scale mapping studies have identified 236 independent genetic variants associated
with an increased risk of multiple sclerosis. However, none of these variants are found …

Early intermittent hyperlipidaemia alters tissue macrophages to fuel atherosclerosis

M Takaoka, X Zhao, HY Lim, CG Magnussen, O Ang… - Nature, 2024 - nature.com
Hyperlipidaemia is a major risk factor of atherosclerotic cardiovascular disease (ASCVD).
Risk of cardiovascular events depends on cumulative lifetime exposure to low-density …

Alternative polyadenylation transcriptome-wide association study identifies APA-linked susceptibility genes in brain disorders

Y Cui, FJ Arnold, F Peng, D Wang, JS Li… - Nature …, 2023 - nature.com
Alternative polyadenylation (APA) plays an essential role in brain development; however,
current transcriptome-wide association studies (TWAS) largely overlook APA in nominating …

Transcriptome-and proteome-wide association studies nominate determinants of kidney function and damage

P Schlosser, J Zhang, H Liu, AL Surapaneni, EP Rhee… - Genome biology, 2023 - Springer
Background The pathophysiological causes of kidney disease are not fully understood. Here
we show that the integration of genome-wide genetic, transcriptomic, and proteomic …