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| May 2015 Volume 16 Number 5 | |||||||||||||||||||||||||||||||||||||
| In this issue
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| Comment: The big medical data miss: challenges in establishing an open medical resource Eric J. Topol p253 | doi:10.1038/nrg3943 Abstract | Full Text | PDF | |||||||||||||||||||||||||||||||||||||
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| REVIEWS | Top | ||||||||||||||||||||||||||||||||||||
| Rett syndrome: a complex disorder with simple roots Matthew J. Lyst & Adrian Bird p261 | doi:10.1038/nrg3897 Rett syndrome is a neurological disorder associated with mutations in the X-linked gene MECP2 (methyl-CpG-binding protein 2). This Review details emerging insights into the link between the functions of MeCP2 and the pathogenesis of Rett syndrome. Abstract | Full Text | PDF | |||||||||||||||||||||||||||||||||||||
| Genetic linkage analysis in the age of whole-genome sequencing Jurg Ott, Jing Wang & Suzanne M. Leal p275 | doi:10.1038/nrg3908 Before genome-wide association studies, linkage analysis was the primary approach used for genetic mapping of complex traits in humans. Now, with the widespread application of whole-genome sequencing (WGS), linkage analysis based on WGS data is emerging as a useful tool for the identification of susceptibility genes for human disease. This Review reiterates the main principles of linkage analysis and provides guidelines for performing linkage analysis on WGS data. Abstract | Full Text | PDF | |||||||||||||||||||||||||||||||||||||
| Beyond the thale: comparative genomics and genetics of Arabidopsis relatives Daniel Koenig & Detlef Weigel p285 | doi:10.1038/nrg3883 Arabidopsis thaliana, a member of the phenotypically diverse Brassicaceae family, has proved to be a key model organism for characterizing plant genome and morphological evolution. This Review outlines how recent comparative and functional genomic studies using Arabidopsis relatives have further advanced our understanding of plant diversity and evolution. Abstract | Full Text | PDF | |||||||||||||||||||||||||||||||||||||
| High-throughput functional genomics using CRISPR-Cas9 Ophir Shalem, Neville E. Sanjana & Feng Zhang p299 | doi:10.1038/nrg3899 CRISPR-Cas9 has been adopted as a powerful genome-editing technology in various species. By generating libraries of thousands of guide RNAs — which direct the Cas9 nuclease to chosen genomic loci — high-throughput genetic perturbations are now possible. This Review discusses the latest applications of CRISPR-Cas9 in mammalian functional genomics screens. It covers related genome-scale applications of Cas9 for either gene knockout or transcriptional modulation, and provides comparisons with complementary RNA interference (RNAi)-based approaches. Abstract | Full Text | PDF | |||||||||||||||||||||||||||||||||||||
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| *2013 Journal Citation Report (Thomson Reuters, 2014) |
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