[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 …
Regulatory T cells and human disease
S Sakaguchi, N Mikami, JB Wing… - Annual review of …, 2020 - annualreviews.org
Naturally occurring CD4+ regulatory T cells (Tregs), which specifically express the
transcription factor FoxP3 in the nucleus and CD25 and CTLA-4 on the cell surface, are a …
transcription factor FoxP3 in the nucleus and CD25 and CTLA-4 on the cell surface, are a …
[HTML][HTML] Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics
Genome-wide association studies provide a powerful means of identifying loci and genes
contributing to disease, but in many cases, the related cell types/states through which genes …
contributing to disease, but in many cases, the related cell types/states through which genes …
Single-cell eQTL models reveal dynamic T cell state dependence of disease loci
Non-coding genetic variants may cause disease by modulating gene expression. However,
identifying these expression quantitative trait loci (eQTLs) is complicated by differences in …
identifying these expression quantitative trait loci (eQTLs) is complicated by differences in …
Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis
Rheumatoid arthritis (RA) is a highly heritable complex disease with unknown etiology. Multi-
ancestry genetic research of RA promises to improve power to detect genetic signals, fine …
ancestry genetic research of RA promises to improve power to detect genetic signals, fine …
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 …
The trans-ancestral genomic architecture of glycemic traits
Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic
health. To date, most genetic studies of glycemic traits have focused on individuals of …
health. To date, most genetic studies of glycemic traits have focused on individuals of …
[HTML][HTML] Dynamic landscape of immune cell-specific gene regulation in immune-mediated diseases
Genetic studies have revealed many variant loci that are associated with immune-mediated
diseases. To elucidate the disease pathogenesis, it is essential to understand the function of …
diseases. To elucidate the disease pathogenesis, it is essential to understand the function of …
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
Stroke has multiple etiologies, but the underlying genes and pathways are largely unknown.
We conducted a multiancestry genome-wide-association meta-analysis in 521,612 …
We conducted a multiancestry genome-wide-association meta-analysis in 521,612 …
From genome-wide associations to candidate causal variants by statistical fine-mapping
Advancing from statistical associations of complex traits with genetic markers to
understanding the functional genetic variants that influence traits is often a complex process …
understanding the functional genetic variants that influence traits is often a complex process …