BACKGROUND Diffuse Intrinsic Pontine Glioma (DIPG) is the leading cause of brain tumor-related death in children, with median survival of less than one year. Despite decades of clinical trials, there has been no improvement in prognosis since the introduction of radiotherapy over thirty years ago. OBJECTIVE To review the clinical features and current treatment challenges of DIPG, and discuss ...

Rett syndrome is an X-linked autism-spectrum disorder caused by mutations in MECP2, encoding methyl CpG-binding protein 2. Since the discovery of MECP2 mutations as the genetic cause of Rett syndrome, the understanding of MeCP2 function has evolved. Although MeCP2 was predicted to be a global transcriptional repressor of methylated promoters, large-scale combined epigenomic approaches of MeCP2 ...

The high-throughput revolution has brought an unprecedented amount of epigenomic data for embryonic stem cells (ESCs), including genome-wide profiles of chromatin-bound proteins and histone modifications generated by chromatin immunoprecipitation assays (ChIP-seq). As dataset after dataset of ChIP-seq data is added to the pool, the time is ripe to reverse the viewpoint from being factor-oriente...

During aging, the mechanisms that normally maintain health and stress resistance strikingly decline, resulting in decrepitude, frailty, and ultimately death. Exactly when and how this decline occurs is unknown. Changes in transcriptional networks and chromatin state lie at the heart of age-dependent decline. These epigenomic changes are not only observed during aging but also profoundly affect ...

We currently lack a comprehensive understanding of the mechanisms underlying neural tube formation and their contributions to neural tube defects (NTDs). Developing a model to study such a complex morphogenetic process, especially one that models human-specific aspects, is critical. Three-dimensional, human embryonic stem cell (hESC)-derived neural rosettes (NRs) provide a powerful resource for...

Epigenome-wide association studies represent one means of applying genome-wide assays to identify molecular events that could be associated with human phenotypes. The epigenome is especially intriguing as a target for study, as epigenetic regulatory processes are, by definition, heritable from parent to daughter cells and are found to have transcriptional regulatory properties. As such, the epi...

In this design study, we present an analysis and abstraction of the data and tasks related to the domain of epigenomics, and the design and implementation of an interactive tool to facilitate data analysis and visualization in this domain. Epigenomic data can be grouped into subsets either by k-means clustering or by querying for combinations of presence or absence of signal (on/off) in differe...