Regulation of human interferon signaling by transposon exonization
Innate immune signaling is essential for clearing pathogens and damaged cells and must be
tightly regulated to avoid excessive inflammation or autoimmunity. Here, we found that the …
tightly regulated to avoid excessive inflammation or autoimmunity. Here, we found that the …
Misexpression of inactive genes in whole blood is associated with nearby rare structural variants
Gene misexpression is the aberrant transcription of a gene in a context where it is usually
inactive. Despite its known pathological consequences in specific rare diseases, we have a …
inactive. Despite its known pathological consequences in specific rare diseases, we have a …
Extensive co-regulation of neighboring genes complicates the use of eQTLs in target gene prioritization
R Tambets, A Kolde, P Kolberg, MI Love… - Human Genetics and …, 2024 - cell.com
Identifying causal genes underlying genome-wide association studies (GWASs) is a
fundamental problem in human genetics. Although colocalization with gene expression …
fundamental problem in human genetics. Although colocalization with gene expression …
The common VTE-protective G haplotype of F5 increases factor V-short, TFPI function, and risk of bleeding
MC Sims, M Gierula, JC Stephens, A Tokolyi… - Blood …, 2025 - ashpublications.org
The G haplotype is a group of co-inherited single nucleotide variants in the F5 gene that
reduce venous thromboembolism (VTE) risk. Although 7% of the population is homozygous …
reduce venous thromboembolism (VTE) risk. Although 7% of the population is homozygous …
Variant-to-function dissection of rare non-coding GWAS loci with high impact on blood traits
M Tardaguila, D Von Schiller, M Colombo, I Gori… - bioRxiv, 2024 - biorxiv.org
Two decades of Genome Wide Association Studies (GWAS) have yielded hundreds of
thousands of robust genetic associations to human complex traits and diseases …
thousands of robust genetic associations to human complex traits and diseases …