Medulloblastoma, a malignant brain tumour primarily diagnosed during childhood, has
recently been the focus of intensive molecular profiling efforts, profoundly advancing our …

Patients with cancer carry somatic sequence variants in their tumour in addition to the
germline variants in their inherited genome. Although variants in protein-coding regions …

The human genome encodes the blueprint of life, but the function of the vast majority of its
nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) …

Eukaryotic cells make many types of primary and processed RNAs that are found either in
specific subcellular compartments or throughout the cells. A complete catalogue of these …

Genome-wide association studies have identified many noncoding variants associated with
common diseases and traits. We show that these variants are concentrated in regulatory …

Schizophrenia is an idiopathic mental disorder with a heritable component and a substantial
public health impact. We conducted a multi-stage genome-wide association study (GWAS) …

Enhancers are important regulatory elements that can control gene activity across vast
genetic distances. However, the underlying nature of this regulation remains obscured …

The gene expression programs that establish and maintain specific cell states in humans
are controlled by thousands of transcription factors, cofactors, and chromatin regulators …

Nucleosomes cover most of the genome and are thought to be displaced by transcription
factors in regions that direct gene expression. However, the modes of interaction between …

The human genome encodes the blueprint of life, but the function of the vast majority of its
nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) …