[HTML][HTML] 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 …

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 …

[HTML][HTML] New insights into the genetic etiology of Alzheimer's disease and related dementias

C Bellenguez, F Küçükali, IE Jansen, L Kleineidam… - Nature …, 2022 - nature.com
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

N Mullins, AJ Forstner, KS O'Connell, B Coombes… - Nature …, 2021 - nature.com
Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-
wide association study of 41,917 bipolar disorder cases and 371,549 controls of European …

[HTML][HTML] Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

P Gharahkhani, E Jorgenson, P Hysi… - Nature …, 2021 - nature.com
Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-
wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide …

[HTML][HTML] Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

W Zhou, M Kanai, KHH Wu, H Rasheed, K Tsuo… - Cell Genomics, 2022 - Elsevier
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …

The single-cell eQTLGen consortium

MGP van der Wijst, DH de Vries, HE Groot, G Trynka… - elife, 2020 - elifesciences.org
In recent years, functional genomics approaches combining genetic information with bulk
RNA-sequencing data have identified the downstream expression effects of disease …

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 …

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 …

[HTML][HTML] Graph pangenome captures missing heritability and empowers tomato breeding

Y Zhou, Z Zhang, Z Bao, H Li, Y Lyu, Y Zan, Y Wu… - Nature, 2022 - nature.com
Missing heritability in genome-wide association studies defines a major problem in genetic
analyses of complex biological traits,. The solution to this problem is to identify all causal …