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Epigenetic alterations, notably in DNA hypermethylation, are emerging as consistent biomarkers for disease. Here, with a focus on cancer, the authors discuss the identification of these biomarkers and their use in disease diagnosis, prognosis and response to therapy.
Telomeres have long been implicated in processes of cellular ageing. This Review discusses how a diverse range of human diseases are now known to be caused by mutations that result in defective telomere maintenance and shortened telomeres. It describes the unique inheritance patterns of telomere defects and how telomere biology sheds light into several disease mechanisms.
The analysis and interpretation of genome-wide DNA methylation data poses unique bioinformatics challenges. In this article, the tools that are available for processing, visualizing and interpreting these epigenetic data sets are discussed, and the relative advantages of various methods are considered.
Emerging evidence points towards RNA polymerase II promoter-proximal pausing as a widespread regulatory mechanism in higher eukaryotes. Here, the authors discuss the evidence for this from genome-wide studies and present potential functions of this regulatory mechanism.
Human pluripotent stem cells hold promise for disease modelling and for cell-based regenerative medicine. This Review summarizes our growing understanding of the genetic and epigenetic abnormalities that can occur in these cells, including their phenotypic consequences and the safety implications for therapies.
Recent measurements of the human mutation rate using next-generation sequencing have revealed a value of approximately half of that previously derived from fossil calibration. Here, the authors discuss the implications of this revised mutation rate in relation to our understanding of human evolution.
