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 …

Genome-wide association studies (GWAS) have found the majority of disease-associated
variants to be non-coding. Major efforts into the charting of the non-coding regulatory …

Single-cell RNA sequencing (scRNA-seq) provides unique insights into the pathology and
cellular origin of disease. We introduce single-cell disease relevance score (scDRS), an …

Background Genome wide association studies (GWAS) have identified and validated more
than 200 genomic loci associated with the inflammatory bowel disease (IBD), although for …

Genome sequencing has revealed over 300 million genetic variations in human
populations. Over 90% of variants are single nucleotide polymorphisms (SNPs), the …

Multiple sclerosis (MS) is an autoimmune disease of the central nervous system (CNS) that
results in significant neurodegeneration in the majority of those affected and is a common …

Our knowledge of complex disorders has increased in the last years thanks to the
identification of genetic variants (GVs) significantly associated with disease phenotypes by …

LD score regression (LDSC) is a method to estimate narrow-sense heritability from genome-
wide association study (GWAS) summary statistics alone, making it a fast and popular …

Autoimmune diseases (ADs) often arise from a combination of genetic and environmental
triggers that disrupt the immune system's capability to properly tolerate body self-antigens …

Gout is a chronic disease of monosodium urate crystal deposition in the setting of
hyperuricemia that typically presents with recurrent flares of acute inflammatory arthritis that …