Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …

Long non-coding RNAs (lncRNAs) are diverse transcription products emanating from
thousands of loci in mammalian genomes. Cis-acting lncRNAs, which constitute a …

Insomnia is a heritable, highly prevalent sleep disorder for which no sufficient treatment
currently exists. Previous genome-wide association studies with up to 1.3 million subjects …

The discovery of genetic loci associated with complex diseases has outpaced the
elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide …

Recent advances in cancer characterization have consistently revealed marked
heterogeneity, impeding the completion of integrated molecular and clinical maps for each …

Chromosome structure in mammals is thought to regulate transcription by modulating three-
dimensional interactions between enhancers and promoters, notably through CTCF …

Single-cell RNA sequencing has revealed extensive transcriptional cell state diversity in
cancer, often observed independently of genetic heterogeneity, raising the central question …

The proper activities of enhancers and gene promoters are essential for coordinated
transcription within a cell. Although diverse methodologies have been developed to identify …

It remains unclear why acute depletion of CTCF (CCCTC-binding factor) and cohesin only
marginally affects expression of most genes despite substantially perturbing three …

Hypertrophic cardiomyopathy (HCM) is a common, serious, genetic heart disorder. Rare
pathogenic variants in sarcomere genes cause HCM, but with unexplained phenotypic …