[HTML][HTML] Colocalization of GWAS and eQTL signals detects target genes
The vast majority of genome-wide association study (GWAS) risk loci fall in non-coding
regions of the genome. One possible hypothesis is that these GWAS risk loci alter the …
regions of the genome. One possible hypothesis is that these GWAS risk loci alter the …
Estimating the causal tissues for complex traits and diseases
How to interpret the biological causes underlying the predisposing markers identified
through genome-wide association studies (GWAS) remains an open question. One direct …
through genome-wide association studies (GWAS) remains an open question. One direct …
[HTML][HTML] Opportunities and challenges for transcriptome-wide association studies
Transcriptome-wide association studies (TWAS) integrate genome-wide association studies
(GWAS) and gene expression datasets to identify gene–trait associations. In this …
(GWAS) and gene expression datasets to identify gene–trait associations. In this …
[HTML][HTML] Interpretation of association signals and identification of causal variants from genome-wide association studies
K Wang, SP Dickson, CA Stolle, ID Krantz… - The American Journal of …, 2010 - cell.com
GWAS have been successful in identifying disease susceptibility loci, but it remains a
challenge to pinpoint the causal variants in subsequent fine-mapping studies. A …
challenge to pinpoint the causal variants in subsequent fine-mapping studies. A …
Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues
Genetic association mapping produces statistical links between phenotypes and genomic
regions, but identifying causal variants remains difficult. Whole-genome sequencing (WGS) …
regions, but identifying causal variants remains difficult. Whole-genome sequencing (WGS) …
[HTML][HTML] Adjusting for genetic confounders in transcriptome-wide association studies improves discovery of risk genes of complex traits
Many methods have been developed to leverage expression quantitative trait loci (eQTL)
data to nominate candidate genes from genome-wide association studies. These methods …
data to nominate candidate genes from genome-wide association studies. These methods …
Transcriptome‐wide association studies accounting for colocalization using Egger regression
Integrating genome‐wide association (GWAS) and expression quantitative trait locus (eQTL)
data into transcriptome‐wide association studies (TWAS) based on predicted expression …
data into transcriptome‐wide association studies (TWAS) based on predicted expression …
[HTML][HTML] Cross-tissue and tissue-specific eQTLs: partitioning the heritability of a complex trait
Top signals from genome-wide association studies (GWASs) of type 2 diabetes (T2D) are
enriched with expression quantitative trait loci (eQTLs) identified in skeletal muscle and …
enriched with expression quantitative trait loci (eQTLs) identified in skeletal muscle and …
[HTML][HTML] Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain
DG Hernandez, MA Nalls, M Moore, S Chong… - Neurobiology of …, 2012 - Elsevier
Genome-wide association studies have nominated many genetic variants for common
human traits, including diseases, but in many cases the underlying biological reason for a …
human traits, including diseases, but in many cases the underlying biological reason for a …
[HTML][HTML] Impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx
Background Population structure among study subjects may confound genetic association
studies, and lack of proper correction can lead to spurious findings. The Genotype-Tissue …
studies, and lack of proper correction can lead to spurious findings. The Genotype-Tissue …