Nature Reviews Genetics
Volume 14, No 5 May 2013
Also this month
Article series: Disease mechanisms
Article series: Applications of next-generation sequencing
Featured Article
Cancer genome-sequencing study design
Jill C. Mwenifumbo & Marco A. Marra
Main pages for finding content:
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Progress
Article series: Translational genetics
Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches
Rebecca J. Fairclough, Matthew J. Wood & Kay E. Davies
Several promising genetic approaches are being investigated for the treatment of Duchenne muscular dystrophy, including traditional gene therapy, stop codon read-through, exon skipping and increased expression of a compensatory gene. The lessons learned should also be valuable for other disorders.
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Ethics watch
Rare diseases and now rare data?
Dawkins, Simon Woods & Mats G. Hansson
Rare disease research is threatened by proposed changes to European privacy laws.
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Research Highlights
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Gene expression:
Super enhancers
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Pathogen sequencing:
Picking and choosing
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Small RNAs:
Defining piRNA expression
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Evolution:
Replication-transcription conflict promotes gene evolution
CURRENT ISSUE
Review
Article series: Disease mechanisms
A genomic view of mosaicism and human disease
Leslie G. Biesecker & Nancy B. Spinner
Mosaicism refers to genetic heterogeneity within an organism that arises from postzygotic mutational events. This Review describes our latest understanding of the diverse types and widespread nature of mosaicism that underlies normal human variation and, in particular, a wide range of clinical diseases.
CURRENT ISSUE
Review
Article series: Applications of next-generation sequencing
Cancer genome-sequencing study design
Jill C. Mwenifumbo & Marco A. Marra
This Review discusses the considerations for designing cancer genome-sequencing studies to fulfil different study aims, such as detecting recurrent mutations or assessing clonal evolution. For example, the cohort type and depth of sequencing can influence the downstream analysis.
CURRENT ISSUE
Review
Computational solutions for omics data
Bonnie Berger, Jian Peng & Mona Singh
The recent explosion of genomics data has prompted the development of advanced algorithmic techniques to aid in the analysis, storage and retrieval of these data in the hunt for answers to biological questions. In this article, several examples of these algorithms are highlighted to aid in the use and selection of such algorithms.
More Genetics
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Web Focus Collection
Selected articles from the Nature Publishing Group on key current topics.
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Article Series
A special series of articles that explores a specific theme and that are published consecutively over a period of time.
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Genetics Conferences
A calendar of forthcoming meetings and workshops from across the field of genetics and genomics.
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Poster Collection
A poster provides a visual overview of a timely topic in genetics and can be viewed online as a high-resolution PDF.
Noticeboard
Article series on Computational tools
The articles in this new series focus on the application of computational tools in the analysis, interpretation and storage of genetic and genomic data.
Article series on Disease mechanisms
Genetics continues to play a crucial part in furthering our understanding of the basis of disease. The articles in this new series focus on genetic studies of specific diseases or specific processes in pathogenesis.
Article series on Regulatory elements
The articles in this series discuss recent views on regulatory elements, including their role in evolution and the function of chromatin modifications, as well as methods to study these important regions of the genome.
Animation and slideshow on RNA interference
The principles of RNAi are introduced in this free, 3D animation featuring small interfering RNAs (siRNAs) and microRNAs (miRNAs). Further information about RNAi is provided in an accompanying slideshow.
Animation by Arkitek Studios; advised by Craig C. Mello; sponsored by Thermo Scientific.
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2011 Journal Citation Report (Thomson Reuters, 2012)