Nature Reviews Genetics Contents October 2012 Volume 13 Number 10 pp 673-753

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TABLE OF CONTENTS
October 2012 Volume 13 Number 10		Advertisement
Impact Factor 19.211 *	In this issue Research Highlights Reviews Perspectives Also this month Article series: Translational genetics Disease mechanisms Computational tools Modes of transcriptional regulation  Featured article: DNA methylation profiling in the clinic: applications and challenges Holger Heyn & Manel Esteller	Understand how genes are regulated…not just expressed. The LightSwitch Luciferase Reporter Assay System provides everything you need to study gene regulation in living cells: 18,000 pre-cloned human promoters and 12,000 3'UTRs in luciferase reporter vectors, synthetic elements, and optimized reagents. Measure promoter induction and miRNA target validation in vivo. Visit SwitchGear Genomics and explore both our genome-wide collections and validated pathway screening sets.
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The Encyclopaedia of DNA Elements 30 papers published simultaneously in Nature, Genome Research and Genome Biology. Access videos, Features and the collected research papers, and explore the thematic threads that run through them via the Nature ENCODE explorer or the NatureENCODE app. Produced with support from Illumina
RESEARCH HIGHLIGHTS Top Epigenomics: Dissecting the roles of Pol V p673 | doi:10.1038/nrg3328 PDF Chromatin: A model for nucleosome positioning p674 | doi:10.1038/nrg3331 PDF Development: Reinforcing feedback p674 | doi:10.1038/nrg3332 PDF ETHICS WATCH To know or not to know the genomic sequence of a fetus p676 | doi:10.1038/nrg3333 PDF ETHICS WATCH Comprehensive pre-implantation genetic screening: ethical reflection urgently needed p676 | doi:10.1038/nrg3334 PDF Disease genetics: Reporting on stability p677 | doi:10.1038/nrg3330 PDF Genomics: Users' guide to the human genome p678 | doi:10.1038/nrg3329 PDF IN BRIEF Gene therapy: Single-stranded RNAs for potent RNAi | Clinical genomics: Sequencing to track bacterial infection outbreaks | Human genitics: Determining de novo mutation rates | Functional genomics: Mouse ENCODE | Epigenetics: Chromatin inheritance during DNA replication | Evolutionary genomics: Introgression in natural populations | Technology: Genome-wide mapping of 5-formylcytosine PDF Genetics JOBS of the week Professorship for Molecular Genetics University of Salzburg, Austria Postdoctoral Fellow in Mouse Genetics / Cancer Genomics Fred Hutchinson Cancer Research Center Postdoctoral Associate- Genetics and Circuitry of Sleep Johns Hopkins University - School of Medicine Assistant Professor in Human Genetics UT Southwestern Medical Center at Dallas Professor in Molecular Genetics Aarhus University Denmark More Science jobs from Genetics EVENT International conference on Genetic Syndromes & Gene Therapy 22.-24.10.12 Chicago, US More science events from
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REVIEWS		Top
Article series: Translational genetics DNA methylation profiling in the clinic: applications and challenges Holger Heyn & Manel Esteller p679 | doi:10.1038/nrg3270 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. Abstract | Full Text | PDF
Article series: Disease mechanisms The telomere syndromes Mary Armanios & Elizabeth H. Blackburn p693 | doi:10.1038/nrg3246 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. Abstract | Full Text | PDF
Article series: Computational tools Analysing and interpreting DNA methylation data Christoph Bock p705 | doi:10.1038/nrg3273 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. Abstract | Full Text | PDF
Article series: Modes of transcriptional regulation Promoter-proximal pausing of RNA polymerase II: emerging roles in metazoans Karen Adelman & John T. Lis p720 | doi:10.1038/nrg3293 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. Abstract | Full Text | PDF
Genetic and epigenetic stability of human pluripotent stem cells Riikka J. Lund, Elisa Närvä & Riitta Lahesmaa p732 | doi:10.1038/nrg3271 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. Abstract | Full Text | PDF | Supplementary information
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PERSPECTIVES		Top
OPINION Revising the human mutation rate: implications for understanding human evolution Aylwyn Scally & Richard Durbin p745 | doi:10.1038/nrg3295 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. Abstract | Full Text | PDF | Supplementary information
Corrigendum: Improving human forensics through advances in genetics, genomics and molecular biology Manfred Kayser & Peter de Knijff p753 | doi:10.1038/nrg3327 Full Text | PDF
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Nature Reviews Genetics ARTICLE SERIES ON DISEASE MECHANISMS Starting August 2012 The articles in this series demonstrate the crucial part genetics plays in furthering our understanding of the basis of disease, from revealing biological pathways to improving knowledge of the relative contributions of various genetic and environmental factors. Follow the Article Series online: www.nature.com/nrg/series/disease
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*2011 Journal Citation Report (Thomson Reuters, 2012)

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