We bring you the latest news from the healthcare about the health care in the United Kingdom.

vrijdag 13 april 2018

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

If you are unable to see the message below, click here to view.
Nature Reviews Genetics
 

Advertisement
Do you have a career question? 

The Naturejobs podcast features one-on-one Q&As, panel discussions and other exclusive content to help scientists with their careers. Hosted on the Naturejobs blog, the podcast is also available on iTunes and Soundcloud. 

Listen today! 
 
TABLE OF CONTENTS
 
May 2018 Volume 19 Number 5 Advertisement
 
Nature Reviews Genetics cover
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 

 
Subscribe
 
Facebook
 
RSS
 
Recommend to library
 
Twitter
   
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
Advertisement
Searching for a new career?

At Nature Research we frequently recruit talented individuals to join our editorial and publishing teams. If you have a PhD and a passion for science this may be the perfect career for you.

Visit our research editorial and publishing careers website to discover more about what we do
 
 
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
 
nature events
Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here.

Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com
More Nature Events

You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/myaccount
(You will need to log in to be recognised as a nature.com registrant).

For further technical assistance, please contact our registration department

For print subscription enquiries, please contact our subscription department

For other enquiries, please contact our feedback department

Springer Nature | One New York Plaza, Suite 4500 | New York | NY 10004-1562 | USA

Springer Nature's worldwide offices:
London - Paris - Munich - New Delhi - Tokyo - Melbourne
San Diego - San Francisco - Washington - New York - Boston

Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at The Campus, 4 Crinan Street, London, N1 9XW.

© 2018 Macmillan Publishers Limited, part of Springer Nature. All Rights Reserved.

Springer Nature