[HTML][HTML] Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases
Regulatory and coding variants are known to be enriched with associations identified by
genome-wide association studies (GWASs) of complex disease, but their contributions to …
genome-wide association studies (GWASs) of complex disease, but their contributions to …
[HTML][HTML] Contrasting the genetic architecture of 30 complex traits from summary association data
Variance-component methods that estimate the aggregate contribution of large sets of
variants to the heritability of complex traits have yielded important insights into the genetic …
variants to the heritability of complex traits have yielded important insights into the 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 …
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 …
Linking disease associations with regulatory information in the human genome
Genome-wide association studies have been successful in identifying single nucleotide
polymorphisms (SNPs) associated with a large number of phenotypes. However, an …
polymorphisms (SNPs) associated with a large number of phenotypes. However, an …
[HTML][HTML] Integrating gene expression with summary association statistics to identify genes associated with 30 complex traits
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 …
for many complex traits and diseases, the causal variants and genes at these loci remain …
[HTML][HTML] Estimating SNP-based heritability and genetic correlation in case-control studies directly and with summary statistics
Methods that estimate SNP-based heritability and genetic correlations from genome-wide
association studies have proven to be powerful tools for investigating the genetic …
association studies have proven to be powerful tools for investigating the genetic …
[HTML][HTML] Underestimated effect sizes in GWAS: fundamental limitations of single SNP analysis for dichotomous phenotypes
Complex diseases are often highly heritable. However, for many complex traits only a small
proportion of the heritability can be explained by observed genetic variants in traditional …
proportion of the heritability can be explained by observed genetic variants in traditional …
[HTML][HTML] Winner's curse correction and variable thresholding improve performance of polygenic risk modeling based on genome-wide association study summary-level …
Recent heritability analyses have indicated that genome-wide association studies (GWAS)
have the potential to improve genetic risk prediction for complex diseases based on …
have the potential to improve genetic risk prediction for complex diseases based on …
[HTML][HTML] Local genetic correlation gives insights into the shared genetic architecture of complex traits
Although genetic correlations between complex traits provide valuable insights into
epidemiological and etiological studies, a precise quantification of which genomic regions …
epidemiological and etiological studies, a precise quantification of which genomic regions …