Systematic differences in discovery of genetic effects on gene expression and complex traits
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …
noncoding genetic variants with putative gene regulatory effects. However, currently …
Limited overlap of eQTLs and GWAS hits due to systematic differences in discovery
Most signals in genome-wide association studies (GWAS) of complex traits point to
noncoding genetic variants with putative gene regulatory effects. However, currently …
noncoding genetic variants with putative gene regulatory effects. However, currently …
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 …
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 …
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 …
The missing link between genetic association and regulatory function
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …
widely assumed that such alleles exert small regulatory effects on the expression of cis …
Multiple causal variants underlie genetic associations in humans
Associations between genetic variation and traits are often in noncoding regions with strong
linkage disequilibrium (LD), where a single causal variant is assumed to underlie the …
linkage disequilibrium (LD), where a single causal variant is assumed to underlie the …
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) …
Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
Genome-wide association studies (GWAS) have identified thousands of genetic variants
associated with human complex traits. However, the genes or functional DNA elements …
associated with human complex traits. However, the genes or functional DNA elements …
Patterns of Cis Regulatory Variation in Diverse Human Populations
The genetic basis of gene expression variation has long been studied with the aim to
understand the landscape of regulatory variants, but also more recently to assist in the …
understand the landscape of regulatory variants, but also more recently to assist in the …
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