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 …
Towards a comprehensive catalogue of validated and target-linked human enhancers
The human gene catalogue is essentially complete, but we lack an equivalently vetted
inventory of bona fide human enhancers. Hundreds of thousands of candidate enhancers …
inventory of bona fide human enhancers. Hundreds of thousands of candidate enhancers …
Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens
Most variants associated with complex traits and diseases identified by genome-wide
association studies (GWAS) map to noncoding regions of the genome with unknown effects …
association studies (GWAS) map to noncoding regions of the genome with unknown effects …
Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
Activity-by-contact model of enhancer–promoter regulation from thousands of CRISPR perturbations
Enhancer elements in the human genome control how genes are expressed in specific cell
types and harbor thousands of genetic variants that influence risk for common diseases …
types and harbor thousands of genetic variants that influence risk for common diseases …
The allelic landscape of human blood cell trait variation and links to common complex disease
WJ Astle, H Elding, T Jiang, D Allen, D Ruklisa… - Cell, 2016 - cell.com
Many common variants have been associated with hematological traits, but identification of
causal genes and pathways has proven challenging. We performed a genome-wide …
causal genes and pathways has proven challenging. We performed a genome-wide …
Current challenges in understanding the role of enhancers in disease
Enhancers play a central role in the spatiotemporal control of gene expression and tend to
work in a cell-type-specific manner. In addition, they are suggested to be major contributors …
work in a cell-type-specific manner. In addition, they are suggested to be major contributors …
Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases
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 …
biology of complex human traits and diseases, but associated variants rarely point directly to …
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 …
Ribosome levels selectively regulate translation and lineage commitment in human hematopoiesis
Blood cell formation is classically thought to occur through a hierarchical differentiation
process, although recent studies have shown that lineage commitment may occur earlier in …
process, although recent studies have shown that lineage commitment may occur earlier in …