[PDF][PDF] Novel aggregative trans-eqtl association analysis of known genetic variants detect trait-specific target gene-sets

D Dutta, Y He, A Saha, M Arvanitis, A Battle… - medRxiv, 2020 - alorchhota.github.io
Large scale genetic association studies have identified many trait-associated variants and
understanding the role of these variants in downstream regulation of gene-expressions can …

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 …

Trans-eQTL mapping in gene sets identifies network effects of genetic variants

L Wang, N Babushkin, Z Liu, X Liu - Cell Genomics, 2024 - cell.com
Nearly all trait-associated variants identified in genome-wide association studies (GWASs)
are noncoding. The cis regulatory effects of these variants have been extensively …

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 …

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 …

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 …

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 …

Transcriptome-wide gene-gene interaction associations elucidate pathways and functional enrichment of complex traits

LM Evans, CH Arehart, AD Grotzinger, TJ Mize… - PLoS …, 2023 - journals.plos.org
It remains unknown to what extent gene-gene interactions contribute to complex traits. Here,
we introduce a new approach using predicted gene expression to perform exhaustive …

IBAS: Interaction-bridged association studies discovering novel genes underlying complex traits

P Kossinna, S Kumarapeli, Q Zhang - bioRxiv, 2023 - biorxiv.org
The contribution of genetic variants to a complex phenotype may be mediated by various
forms of complicated interactions. Currently, the discovery of genetic variants underlying …

Reverse regression increases power for detecting trans-eQTLs

S Banerjee, FL Simonetti, KE Detrois, A Kaphle, R Mitra… - bioRxiv, 2020 - biorxiv.org
Trans-acting expression quantitative trait loci (trans-eQTLs) are genetic variants affecting the
expression of distant genes. They account for≥ 70% expression heritability and could …