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

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Nature Reviews Genetics

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2016 2-year Impact Factor 40.282 Journal Metrics 2-year Median 28.5
In this issue
Research Highlights

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

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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


Transcriptomics: Finding structure in gene expression
p249 | doi:10.1038/nrg.2018.19

Genetic engineering: Expanding the reach of Cas9
p250 | doi:10.1038/nrg.2018.15

Human genetics: Population-scale family trees from publicly available data
p250 | doi:10.1038/nrg.2018.16

Human evolution: Archaic admixture with Denisovans
p251 | doi:10.1038/nrg.2018.18


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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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