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| May 2013 Volume 14 Number 5 | Advertisement | ||||||||||||||||||||||||||||||||||||
In this issue
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| ETHICS WATCH | Top | ||||||||||||||||||||||||||||||||||||
| Next-generation sequencing: does the next generation still have a right to an open future? Annelien L. Bredenoord, Martine C. de Vries & Johannes J. M. van Delden p306 | doi:10.1038/nrg3459 The use of next-generation sequencing in paediatric medicine is challenging the prevailing current ethical framework, under which only genetic information that is of immediate benefit to a child's health is disclosed. Full Text | PDF | |||||||||||||||||||||||||||||||||||||
| REVIEWS | Top | ||||||||||||||||||||||||||||||||||||
A genomic view of mosaicism and human disease Leslie G. Biesecker & Nancy B. Spinner p307 | doi:10.1038/nrg3424 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. Abstract | Full Text | PDF | |||||||||||||||||||||||||||||||||||||
Cancer genome-sequencing study design Jill C. Mwenifumbo & Marco A. Marra p321 | doi:10.1038/nrg3445 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. Abstract | Full Text | PDF | Supplementary information | |||||||||||||||||||||||||||||||||||||
| Computational solutions for omics data Bonnie Berger, Jian Peng & Mona Singh p333 | doi:10.1038/nrg3433 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. Abstract | Full Text | PDF | |||||||||||||||||||||||||||||||||||||
| From neural development to cognition: unexpected roles for chromatin Jehnna L. Ronan, Wei Wu & Gerald R. Crabtree p347 | doi:10.1038/nrg3413 Recent genome-sequencing studies in human neurodevelopmental and psychiatric disorders have revealed mutations in chromatin-modifying enzymes, such as chromatin remodellers and histone-modifying enzymes. Such studies are improving our understanding of the roles of these modifiers in human neurodevelopment, and this article discusses the emerging roles for several of these enzymes in development and disease. Abstract | Full Text | PDF | Supplementary information | |||||||||||||||||||||||||||||||||||||
| PERSPECTIVES | Top | ||||||||||||||||||||||||||||||||||||
| OPINION Functional and evolutionary implications of gene orthology Toni Gabaldón & Eugene V. Koonin p360 | doi:10.1038/nrg3456 The concepts of orthology and paralogy are fundamental to comparative genomics and are also frequently used for the functional annotation of uncharacterized genes. However, assumptions regarding function have recently been challenged, and the implications of assigning genes as orthologues or paralogues are far from straightforward. Abstract | Full Text | PDF | |||||||||||||||||||||||||||||||||||||
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| *2011 Journal Citation Report (Thomson Reuters, 2012) |
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