Nature Reviews Genetics Contents November 2011 Volume 12 Number 11 pp 737 - 801

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TABLE OF CONTENTS
November 2011 Volume 12 Number 11		Advertisement
Impact Factor 32.745 * Subscribe to Nature Reviews Genetics Recommend to your library Sign up to Twitter for updates from Nature Reviews Genetics	In this issue Comment Research Highlights Reviews Also this month Poster: Tools for studying and using small RNAs: from pathways to functions to therapies Article series: Translational genetics Study designs  Featured article: Exome sequencing as a tool for Mendelian disease gene discovery Michael J. Bamshad, Sarah B. Ng, Abigail W. Bigham, Holly K. Tabor, Mary J. Emond, Deborah A. Nickerson & Jay Shendure	Effectively screen formalin fixed tissue Formalin-Fixed Paraffin Embedded tissue can provide invaluable information, but is notoriously difficult to use. The MassARRAY® system enables highly sensitive, reproducible somatic mutation profiling and methylation analysis even with minimal amounts of degraded FFPE tissue. Discover the potential of your archival samples. http://www.sequenom.com/home/
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From the editors p737 | doi:10.1038/nrg3091 Exploring patterns of mutation across the genome, plus a free Poster on small RNAs. PDF
Comment: Connecting the public with biobank research: reciprocity matters Herbert Gottweis, George Gaskell & Johannes Starkbaum p738 | doi:10.1038/nrg3083 Abstract | Full Text | PDF
RESEARCH HIGHLIGHTS Top Epigenomics: Epigenetic variation across the generations p740 | doi:10.1038/nrg3084 PDF Cancer genomics: Translocation patterns revealed p741 | doi:10.1038/nrg3090 PDF RNA: Genome-wide views of long non-coding RNAs p742 | doi:10.1038/nrg3088 PDF Model organisms: The dangers lurking in the genetic background p742 | doi:10.1038/nrg3089 PDF Human disease: Huge boost for genetics of cognitive disorders p743 | doi:10.1038/nrg3085 PDF Chromatin: A haul of new histone modifications p744 | doi:10.1038/nrg3086 PDF Genomics: Getting personal and regional p744 | doi:10.1038/nrg3087 PDF IN BRIEF Complex traits: Genome-wide association mapping in rice | Chromatin: An evolutionary perspective on nucleosome positioning | Human genomics: Relationships between cis-regulatory and coding variants | DNA sequencing: Exome sequencing technologies compared | Genome engineering: Synthetic genome technology for yeast | Gene expression: Mapping QTLs for genomic stochastic noise | Transcriptomics: Measuring gene expression in non-model organisms | Stem cells: Splicing switch is key to pluripotency PDF Genetics JOBS of the week Postdoctoral Fellow - Differentiation of Embryonic Stem Cells Mount Sinai School of Medicine (Baron Lab) New York, US Postdoctoral Fellow Louisiana State University Baton Rouge, US Post-Doctoral - (ASawalha) Epigenetic abnormalities in the pathogenesis of Lupus - Arthritis and Clinical Immunology Oklahoma Medical Research Foundation (OMRF) Oklahoma City, US Alzheimer’s Research UK Clinical Research Fellowship Alzheimer’s Research UK GB Postdoctoral Research Fellows IASS, Institute for Advanced Sustainability Studies e.V. Potsdam, DE More Science jobs from Genetics EVENT Functional Genomics & Systems Biology 2011 29.11.-01.12.11 Hinxton, UK More science events from
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REVIEWS		Top
Article series: Translational genetics Exome sequencing as a tool for Mendelian disease gene discovery Michael J. Bamshad, Sarah B. Ng, Abigail W. Bigham, Holly K. Tabor, Mary J. Emond, Deborah A. Nickerson & Jay Shendure p745 | doi:10.1038/nrg3031 Exome sequencing is a powerful approach for accelerating the discovery of the genes underlying Mendelian disorders and, increasingly, of genes underlying complex traits. This Review describes the experimental and analytical options for applying exome sequencing and the key challenges in using this approach. Abstract | Full Text | PDF | Supplementary information
Variation in the mutation rate across mammalian genomes Alan Hodgkinson & Adam Eyre-Walker p756 | doi:10.1038/nrg3098 Large genomic data sets are revealing that mutation rates vary across genomes at many different scales, from the effects caused by neighbouring nucleotides to patterns that affect whole chromosomes. These varying mutation rates have implications for inherited and somatic disease. Abstract | Full Text | PDF
Article series: Study designs Molecular spandrels: tests of adaptation at the genetic level Rowan D. H. Barrett & Hopi E. Hoekstra p767 | doi:10.1038/nrg3015 Although many studies claim to have detected an adaptive allele, this label is not always applied rigorously. The authors argue that obtaining direct evidence that specific alleles are adaptive requires approaches which functionally connect genotype, phenotype and fitness. Abstract | Full Text | PDF | Supplementary information
Understanding type 1 diabetes through genetics: advances and prospects Constantin Polychronakos & Quan Li p781 | doi:10.1038/nrg3069 Various genetic and functional studies have enhanced the understanding of type 1 diabetes susceptibility genes, including their roles in the underlying immune dysfunction. This Review summarizes the current understanding of type 1 diabetes genetics from the identification of novel susceptibility loci to functional characterization of new and established risk loci. Abstract | Full Text | PDF
The early bird catches the worm: new technologies for the Caenorhabditis elegans toolkit Xiao Xu & Stuart K. Kim p793 | doi:10.1038/nrg3050 The nematode worm Caenorhabditis elegans has long been a key model organism, not least owing to its powerful genetic toolkit. Recent technological advances — for example, in manipulating gene expression and physiology — further increase the power of the worm as a model. Abstract | Full Text | PDF
Erratum: Assessing and managing risk when sharing aggregate genetic variant data David W. Craig, Robert M. Goor, Zhenyuan Wang, Justin Paschall, Jim Ostell, Michael Feolo, Stephen T. Sherry & Teri A. Manolio p801 | doi:10.1038/nrg3093 Full Text | PDF
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