Advancing the use of genome-wide association studies for drug repurposing

WR Reay, MJ Cairns - Nature Reviews Genetics, 2021 - nature.com
Genome-wide association studies (GWAS) have revealed important biological insights into
complex diseases, which are broadly expected to lead to the identification of new drug …

Opportunities and challenges for transcriptome-wide association studies

M Wainberg, N Sinnott-Armstrong, N Mancuso… - Nature …, 2019 - nature.com
Transcriptome-wide association studies (TWAS) integrate genome-wide association studies
(GWAS) and gene expression datasets to identify gene–trait associations. In this …

webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association study

C Cao, J Wang, D Kwok, F Cui, Z Zhang… - Nucleic acids …, 2022 - academic.oup.com
The development of transcriptome-wide association studies (TWAS) has enabled
researchers to better identify and interpret causal genes in many diseases. However, there …

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

AG Bick, JS Weinstock, SK Nandakumar, CP Fulco… - Nature, 2020 - nature.com
Age is the dominant risk factor for most chronic human diseases, but the mechanisms
through which ageing confers this risk are largely unknown. The age-related acquisition of …

Constrained maximum likelihood-based Mendelian randomization robust to both correlated and uncorrelated pleiotropic effects

H Xue, X Shen, W Pan - The American Journal of Human Genetics, 2021 - cell.com
With the increasing availability of large-scale GWAS summary data on various complex traits
and diseases, there have been tremendous interests in applications of Mendelian …

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

SM Zekavat, SH Lin, AG Bick, A Liu, K Paruchuri… - Nature medicine, 2021 - nature.com
Age is the dominant risk factor for infectious diseases, but the mechanisms linking age to
infectious disease risk are incompletely understood. Age-related mosaic chromosomal …

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 …

A unified framework for joint-tissue transcriptome-wide association and Mendelian randomization analysis

D Zhou, Y Jiang, X Zhong, NJ Cox, C Liu… - Nature …, 2020 - nature.com
Here, we present a joint-tissue imputation (JTI) approach and a Mendelian randomization
framework for causal inference, MR-JTI. JTI borrows information across transcriptomes of …

Transcriptomic organization of the human brain in post-traumatic stress disorder

MJ Girgenti, J Wang, D Ji, DA Cruz, MB Stein… - Nature …, 2021 - nature.com
Despite extensive study of the neurobiological correlates of post-traumatic stress disorder
(PTSD), little is known about its molecular determinants. Here, differential gene expression …

Quantifying genetic effects on disease mediated by assayed gene expression levels

DW Yao, LJ O'connor, AL Price, A Gusev - Nature genetics, 2020 - nature.com
Disease variants identified by genome-wide association studies (GWAS) tend to overlap
with expression quantitative trait loci (eQTLs), but it remains unclear whether this overlap is …