[HTML][HTML] Adjusting for genetic confounders in transcriptome-wide association studies improves discovery of risk genes of complex traits

S Zhao, W Crouse, S Qian, K Luo, M Stephens, X He - Nature Genetics, 2024 - nature.com
Many methods have been developed to leverage expression quantitative trait loci (eQTL)
data to nominate candidate genes from genome-wide association studies. These methods …

Genome-wide association: a promising start to a long race

DM Evans, LR Cardon - Trends in genetics, 2006 - cell.com
A recent study by Cheung et al. demonstrates how to identify expression quantitative trait
loci (eQTLs) underlying gene expression phenotypes through a combination of genome …

[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 …

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 …

Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits

F Hormozdiari, S Gazal, B Van De Geijn, HK Finucane… - Nature …, 2018 - nature.com
There is increasing evidence that many risk loci found using genome-wide association
studies are molecular quantitative trait loci (QTLs). Here we introduce a new set of functional …

Probabilistic fine-mapping of transcriptome-wide association studies

N Mancuso, MK Freund, R Johnson, H Shi, G Kichaev… - Nature …, 2019 - nature.com
Transcriptome-wide association studies using predicted expression have identified
thousands of genes whose locally regulated expression is associated with complex traits …

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 …

[HTML][HTML] Predicting gene targets from integrative analyses of summary data from GWAS and eQTL studies for 28 human complex traits

JMW Pavlides, Z Zhu, J Gratten, AF McRae, NR Wray… - Genome medicine, 2016 - Springer
Genome-wide association studies (GWAS) have identified hundreds of genetic variants
associated with complex traits and diseases. However, elucidating the causal genes …

Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues

AA Brown, A Vinuela, O Delaneau, TD Spector… - Nature …, 2017 - nature.com
Genetic association mapping produces statistical links between phenotypes and genomic
regions, but identifying causal variants remains difficult. Whole-genome sequencing (WGS) …

Estimating the causal tissues for complex traits and diseases

H Ongen, AA Brown, O Delaneau, NI Panousis… - Nature …, 2017 - nature.com
How to interpret the biological causes underlying the predisposing markers identified
through genome-wide association studies (GWAS) remains an open question. One direct …