Aggregative trans-eQTL analysis detects trait-specific target gene sets in whole blood

D Dutta, Y He, A Saha, M Arvanitis, A Battle… - Nature …, 2022 - nature.com
Large scale genetic association studies have identified many trait-associated variants and
understanding the role of these variants in the downstream regulation of gene-expressions …

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

U Võsa, A Claringbould, HJ Westra, MJ Bonder… - Nature …, 2021 - nature.com
Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …

Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

YA Reshef, HK Finucane, DR Kelley, A Gusev… - Nature …, 2018 - nature.com
Biological interpretation of genome-wide association study data frequently involves
assessing whether SNPs linked to a biological process, for example, binding of a …

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 …

Dissecting the genetics of complex traits using summary association statistics

B Pasaniuc, AL Price - Nature reviews genetics, 2017 - nature.com
During the past decade, genome-wide association studies (GWAS) have been used to
successfully identify tens of thousands of genetic variants associated with complex traits and …

Probabilistic integration of transcriptome-wide association studies and colocalization analysis identifies key molecular pathways of complex traits

J Okamoto, L Wang, X Yin, F Luca, R Pique-Regi… - The American Journal of …, 2023 - cell.com
Integrative genetic association methods have shown great promise in post-GWAS (genome-
wide association study) analyses, in which one of the most challenging tasks is identifying …

Identification of putative effector genes across the GWAS Catalog using molecular quantitative trait loci from 68 tissues and cell types

C Guo, KB Sieber, J Esparza-Gordillo, MR Hurle… - BioRxiv, 2019 - biorxiv.org
Identifying the effector genes from genome-wide association studies (GWAS) is a crucial
step towards understanding the biological mechanisms underlying complex traits and …

Integrating gene expression with summary association statistics to identify genes associated with 30 complex traits

N Mancuso, H Shi, P Goddard, G Kichaev… - The American Journal of …, 2017 - cell.com
Although genome-wide association studies (GWASs) have identified thousands of risk loci
for many complex traits and diseases, the causal variants and genes at these loci remain …

Large-scale identification of common trait and disease variants affecting gene expression

ME Hauberg, W Zhang, C Giambartolomei… - The American Journal of …, 2017 - cell.com
Genome-wide association studies (GWASs) have identified a multitude of genetic loci
involved with traits and diseases. However, it is often unclear which genes are affected in …

Integrative genomics: quantifying significance of phenotype-genotype relationships from multiple sources of high-throughput data

ER Gamazon, RS Huang, ME Dolan, NJ Cox… - Frontiers in …, 2013 - frontiersin.org
Given recent advances in the generation of high-throughput data such as whole-genome
genetic variation and transcriptome expression, it is critical to come up with novel methods to …