Nature Reviews Genetics Contents May 2018 Volume 19 Number 5 pp 247-325

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TABLE OF CONTENTS
May 2018 Volume 19 Number 5		Advertisement
2016 2-year Impact Factor 40.282 Journal Metrics 2-year Median 28.5	In this issue Comment Research Highlights Reviews   Also this month Article series: Translational genetics Applications of next-generation sequencing Disease mechanisms  Featured article: Paediatric genomics: diagnosing rare disease in children Caroline F. Wright, David R. FitzPatrick & Helen V. Firth	Focal Point on Japan's Designated National University Initiative Japan's radical new program to boost just a handful of universities has precedents across the world  Access free online
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Comment: The ethics of patenting autism genes Kristien Hens, Ilse Noens, Hilde Peeters & Jean Steyaert p247 | doi:10.1038/nrg.2018.17 A recent patent granted for methods for diagnosing autism spectrum disorder (ASD) raises several ethical concerns beyond the fundamental question of whether genomic sequences are patentable, as it suggests that genetic testing can provide a diagnosis of ASD even before behavioural symptoms present. Full Text | PDF
RESEARCH HIGHLIGHTS   Top Transcriptomics: Finding structure in gene expression p249 | doi:10.1038/nrg.2018.19 PDF Genetic engineering: Expanding the reach of Cas9 p250 | doi:10.1038/nrg.2018.15 PDF Human genetics: Population-scale family trees from publicly available data p250 | doi:10.1038/nrg.2018.16 PDF Human evolution: Archaic admixture with Denisovans p251 | doi:10.1038/nrg.2018.18 PDF   Genetics JOBS of the week Postdoctoral Fellow / Genetics, Genomics & Informatics - 18000000GT The University of Tennessee Health Science Center (UTHSC) Postdoc positions Genomics, Genetics, Precision Medicine and Machine Learning Cleveland Clinic Lerner Research Institute Locum Associate Editor, Nature Genetics Nature Research / Springer Nature Postdoctoral Fellowship - Molecular Genetics Texas Scottish Rite Hospital for Children Professor of Genetics and Director of the Center for Genome Health Yale University School of Medicine More Science jobs from Genetics EVENT Drosophila Genetics and Genomics 30.07.18 Hinxton, UK More science events from
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REVIEWS		Top
Article series: Translational genetics Paediatric genomics: diagnosing rare disease in children Caroline F. Wright, David R. FitzPatrick & Helen V. Firth p253 | doi:10.1038/nrg.2017.116 The emerging field of paediatric genomics has leveraged the power of next-generation sequencing technologies to improve the diagnostic rates of rare disease in children. This Review addresses key considerations for safe and effective implementation of genomics in the clinic. Abstract | Full Text | PDF
Article series: Applications of next-generation sequencing Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations Jesse J. Salk, Michael W. Schmitt & Lawrence A. Loeb p269 | doi:10.1038/nrg.2017.117 Despite the remarkable throughput of next-generation sequencing technologies, standard techniques are limited by the difficulty in distinguishing sequencing errors from genuine low-frequency DNA variants within heterogeneous cellular or molecular populations. This Review discusses sequencing methodologies and bioinformatic strategies that have been devised for the reliable detection of rare mutations and describes various important applications in diverse fields including cancer, ageing and metagenomics. Abstract | Full Text | PDF
Article series: Disease mechanisms Tandem repeats mediating genetic plasticity in health and disease Anthony J. Hannan p286 | doi:10.1038/nrg.2017.115 DNA repeats are more liable to mutation than other genetic variants, which enables them to mediate genetic plasticity. The expansion of tandem repeats can cause a range of monogenic disorders, contribute to the missing heritability of polygenic disorders and regulate gene expression, as well as RNA and protein function, in healthy individuals. Abstract | Full Text | PDF
Article series: Disease mechanisms Integrative omics for health and disease Konrad J. Karczewski & Michael P. Snyder p299 | doi:10.1038/nrg.2018.4 This article discusses how integrating different omics data types — such as DNA sequencing, transcriptomics and metabolomics — can provide a rich view of healthy and disease states, including novel clinical diagnoses. The authors discuss the value of the different data types, as well as strategies, considerations and challenges for multi-omic integration in various disease contexts. Abstract | Full Text | PDF
Stretching the limits: from homeostasis to stem cell plasticity in wound healing and cancer Yejing Ge & Elaine Fuchs p311 | doi:10.1038/nrg.2018.9 Adult stem cells are essential for the maintenance of tissue homeostasis and wound repair, but cancer can hijack their tissue regenerative functions to promote malignancy. Ge and Fuchs review recent insights into the determinants and general principles underlying stem cell plasticity under homeostasis, stress and cancer. Abstract | Full Text | PDF
Erratum: Paediatric genomics: diagnosing rare disease in children Caroline F. Wright, David R. FitzPatrick & Helen V. Firth p325 | doi:10.1038/nrg.2018.12 Full Text | PDF
Corrigendum: Cloud computing for genomic data analysis and collaboration Ben Langmead & Abhinav Nellore p325 | doi:10.1038/nrg.2018.8 Full Text | PDF
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