Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types
We introduce an approach to identify disease-relevant tissues and cell types by analyzing
gene expression data together with genome-wide association study (GWAS) summary …
gene expression data together with genome-wide association study (GWAS) summary …
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 …
Partitioning heritability by functional annotation using genome-wide association summary statistics
Recent work has demonstrated that some functional categories of the genome contribute
disproportionately to the heritability of complex diseases. Here we analyze a broad set of …
disproportionately to the heritability of complex diseases. Here we analyze a broad set of …
[HTML][HTML] Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases
Identification of therapeutic targets from genome-wide association studies (GWAS) requires
insights into downstream functional consequences. We harmonized 8,613 RNA-sequencing …
insights into downstream functional consequences. We harmonized 8,613 RNA-sequencing …
Genetic analyses of diverse populations improves discovery for complex traits
Genome-wide association studies (GWAS) have laid the foundation for investigations into
the biology of complex traits, drug development and clinical guidelines. However, the …
the biology of complex traits, drug development and clinical guidelines. However, the …
Hints of hidden heritability in GWAS
G Gibson - Nature genetics, 2010 - nature.com
Although susceptibility loci identified through genome-wide association studies (GWAS)
typically explain only a small proportion of the heritability, a classical quantitative genetic …
typically explain only a small proportion of the heritability, a classical quantitative genetic …
Quantifying genetic effects on disease mediated by assayed gene expression levels
Disease variants identified by genome-wide association studies (GWAS) tend to overlap
with expression quantitative trait loci (eQTLs), but it remains unclear whether this overlap is …
with expression quantitative trait loci (eQTLs), but it remains unclear whether this overlap is …
[HTML][HTML] Integrative analysis of omics summary data reveals putative mechanisms underlying complex traits
The identification of genes and regulatory elements underlying the associations discovered
by GWAS is essential to understanding the aetiology of complex traits (including diseases) …
by GWAS is essential to understanding the aetiology of complex traits (including diseases) …
[HTML][HTML] From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases
E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …
associated with complex traits. These associations could reveal the molecular mechanisms …
[HTML][HTML] Quantifying missing heritability at known GWAS loci
Recent work has shown that much of the missing heritability of complex traits can be
resolved by estimates of heritability explained by all genotyped SNPs. However, it is …
resolved by estimates of heritability explained by all genotyped SNPs. However, it is …