Publications by authors named "Elle M Weeks"
Genome-wide association studies (GWASs) are a valuable tool for understanding the biology of complex human traits and diseases, but associated variants rarely point directly to causal genes. In the present study, we introduce a new method, polygenic priority score (PoPS), that learns trait-relevant gene features, such as cell-type-specific expression, to prioritize genes at GWAS loci. Using a large evaluation set of genes with fine-mapped coding variants, we show that PoPS and the closest gene individually outperform other gene prioritization methods, but observe the best overall performance by combining PoPS with orthogonal methods.
View Article and Find Full Text PDFThe discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide association study (GWAS) for coronary artery disease (CAD) comprising 181,522 cases among 1,165,690 participants of predominantly European ancestry. We detected 241 associations, including 30 new loci.
View Article and Find Full Text PDFArticle Synopsis
- Genome-wide association studies (GWAS) have found many noncoding regions related to diseases, but translating these findings into functional insights is challenging due to insufficient maps of enhancers and target genes.
- The activity-by-contact (ABC) model was developed to predict enhancer-gene interactions and applied across 131 human cell types, linking over 5,000 GWAS signals to nearly 2,250 unique genes with implications for various diseases.
- Specifically for inflammatory bowel disease (IBD), ABC model identified risk variants in enhancers that regulate gene expression, offering a new understanding of disease mechanisms and providing a blueprint for future connections between genetic variants and their functions.