Research over the past several decades has unmasked a major contribution of disrupted
chromatin regulatory processes to human disease, particularly cancer. Advances in genome …

Myriads of epigenomic features have been comprehensively profiled in health and disease
across cell types, tissues and individuals. Although current epigenomic approaches can …

DNA sequencing-based studies of neurodevelopmental disorders (NDDs) have identified a
wide range of genetic determinants. However, a comprehensive analysis of these data, in …

We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …

The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …

Nucleosomes help structure chromosomes by compacting DNA into fibers. To gain insight
into how nucleosomes are arranged in vivo, we combined quantitative super-resolution …

Studies of paediatric cancers have shown a high frequency of mutation across epigenetic
regulators. Here we sequence 633 genes, encoding the majority of known epigenetic …

Epigenetics refers to stable and long-term alterations of cellular traits that are not caused by
changes in the DNA sequence per se. Rather, covalent modifications of DNA and histones …

The senescence of mammalian cells is characterized by a proliferative arrest in response to
stress and the expression of an inflammatory phenotype. Here we show that histone H2A. J …

The pluripotent ground state is defined as a basal state free of epigenetic restrictions, which
influence lineage specification. While naive embryonic stem cells (ESCs) can be maintained …