Partitioning heritability by functional annotation using genome-wide association summary statistics

HK Finucane, B Bulik-Sullivan, A Gusev, G Trynka… - Nature …, 2015 - nature.com
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 …

[PDF][PDF] Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases

A Gusev, SH Lee, G Trynka, H Finucane… - The American Journal of …, 2014 - cell.com
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 …

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

HK Finucane, YA Reshef, V Anttila, K Slowikowski… - Nature …, 2018 - nature.com
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 …

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

Z Zhu, F Zhang, H Hu, A Bakshi, MR Robinson… - Nature …, 2016 - nature.com
Genome-wide association studies (GWAS) have identified thousands of genetic variants
associated with human complex traits. However, the genes or functional DNA elements …

GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals

V Iotchkova, GRS Ritchie, M Geihs, S Morganella… - Nature …, 2019 - nature.com
Loci discovered by genome-wide association studies predominantly map outside protein-
coding genes. The interpretation of the functional consequences of non-coding variants can …

[PDF][PDF] Contrasting the genetic architecture of 30 complex traits from summary association data

H Shi, G Kichaev, B Pasaniuc - The American Journal of Human Genetics, 2016 - cell.com
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 …

Quantifying genetic effects on disease mediated by assayed gene expression levels

DW Yao, LJ O'connor, AL Price, A Gusev - Nature genetics, 2020 - nature.com
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 …

[PDF][PDF] A powerful approach to estimating annotation-stratified genetic covariance via GWAS summary statistics

Q Lu, B Li, D Ou, M Erlendsdottir, RL Powles… - The American Journal of …, 2017 - cell.com
Despite the success of large-scale genome-wide association studies (GWASs) on complex
traits, our understanding of their genetic architecture is far from complete. Jointly modeling …

[PDF][PDF] Joint analysis of functional genomic data and genome-wide association studies of 18 human traits

JK Pickrell - The American Journal of Human Genetics, 2014 - cell.com
Annotations of gene structures and regulatory elements can inform genome-wide
association studies (GWASs). However, choosing the relevant annotations for interpreting …

A plethora of pleiotropy across complex traits

PM Visscher, J Yang - Nature genetics, 2016 - nature.com
A new analysis has identified hundreds of loci that are associated with multiple traits or
diseases by comparing genome-wide association study (GWAS) data for 42 complex traits …