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 linked hundreds of thousands of sequence
variants in the human genome to common traits and diseases. However, translating this …

Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …

Psychiatric genetics has made substantial progress in the last decade, providing new
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …

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 …

Polygenic risk scores (PRSs) have been among the leading advances in biomedicine in
recent years. As a proxy of genetic liability, PRSs are utilised across multiple fields and …

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 …

Over the past thirty years, the importance of chemokines and their seven-transmembrane G
protein-coupled receptors (GPCRs) has been increasingly recognized. Chemokine …

Translating genome-wide association study (GWAS) loci into causal variants and genes
requires accurate cell-type-specific enhancer–gene maps from disease-relevant tissues …

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 …