Research Highlight |
Featured
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Review Article |
Human genetic variation and the gut microbiome in disease
Recent microbiome genome-wide association studies have identified numerous associations between human genetic variants and the gut microbiome. Here, the authors review how genetic variation in the host can alter the composition of the gut microbiome towards a disease state, with a focus on disorders of immunity and metabolism.
- Andrew Brantley Hall
- , Andrew C. Tolonen
- & Ramnik J. Xavier
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Review Article |
Genetics of coronary artery disease: discovery, biology and clinical translation
The past decade has seen tremendous progress in understanding the genetic architecture of coronary artery disease (CAD). Khera and Kathiresan review research efforts that have improved our understanding of the genetic drivers of CAD, and discuss the promises and challenges of integrating genetic information into routine clinical practice.
- Amit V. Khera
- & Sekar Kathiresan
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Review Article |
Transplant genetics and genomics
Advances in genetics and genomics have transformed the field of organ transplantation. Here, the authors review the role of genetic dissimilarities between donor and recipient in transplant tolerance and rejection, and how the identification of genetic variants that predict adverse transplant outcomes can be used for personalized medicine.
- Joshua Y. C. Yang
- & Minnie M. Sarwal
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Review Article |
Autism genetics: opportunities and challenges for clinical translation
Various large studies have provided unprecedented insights into the genetics of autism spectrum disorders (ASDs). This Review discusses the challenges and opportunities of translating genetic and biological insights into clinical progress for ASDs, in areas including genetic testing, ASD classification, genetic counselling, comorbidities and therapeutics.
- Jacob A. S. Vorstman
- , Jeremy R. Parr
- & Joachim F. Hallmayer
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Essay |
Evolving health care through personal genomics
The advent of genomic technologies is changing health care systems, with genomic data increasingly being applied to guide individual patient care. In this Essay, Rehm discusses how genomics is becoming an essential part of clinical care and the existing challenges that must be surmounted to take full advantage of personal genomic information.
- Heidi L. Rehm
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Review Article |
Developing and evaluating polygenic risk prediction models for stratified disease prevention
Common diseases have complex aetiology involving the interplay of genetic susceptibility and environmental risk factors. Here, the authors describe methods for building and evaluating models for the prediction of disease risk based on information from genetic testing and environmental factors, and use case studies to illustrate the potential of such models in the prevention of diseases.
- Nilanjan Chatterjee
- , Jianxin Shi
- & Montserrat García-Closas
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Analysis |
The statistical properties of gene-set analysis
This Analysis provides a statistical evaluation of the core structure inherent to all gene-set analyses. The authors examine current implementations in available tools and show which factors affect valid and successful detection of gene sets.
- Christiaan A. de Leeuw
- , Benjamin M. Neale
- & Danielle Posthuma
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Review Article |
Translating RNA sequencing into clinical diagnostics: opportunities and challenges
RNA sequencing (RNA-seq) is a powerful approach for comprehensive analyses of transcriptomes. This Review describes the widespread potential applications of RNA-seq in clinical medicine, such as detecting disease-associated mutations and gene expression disruptions, as well as characteristic non-coding RNAs, circulating extracellular RNAs or pathogen RNAs. The authors also highlight the challenges in adopting RNA-seq routinely into clinical practice.
- Sara A. Byron
- , Kendall R. Van Keuren-Jensen
- & David W. Craig
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Research Highlight |
Prion variant pathogenicity through large-scale population sequencing
- Darren J. Burgess
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Research Highlight |
CombiGEM — high-throughput identification of combinatorial gene effects
- Liesbet Lieben
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Science and Society |
Return of genetic testing results in the era of whole-genome sequencing
The authors provide a comprehensive survey of international legislation and policies guiding the return of whole-genome-sequencing-based genetic testing results to patients or study participants, within the context of both clinical and research settings.
- Bartha Maria Knoppers
- , Ma'n H. Zawati
- & Karine Sénécal
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Review Article |
Rett syndrome: a complex disorder with simple roots
Rett syndrome is a neurological disorder associated with mutations in the X-linked geneMECP2(methyl-CpG-binding protein 2). This Review details emerging insights into the link between the functions of MeCP2 and the pathogenesis of Rett syndrome.
- Matthew J. Lyst
- & Adrian Bird
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Review Article |
The role of regulatory variation in complex traits and disease
Genetic variation in gene expression among individuals is an important contributor to differences in organismal phenotypes. This Review describes key concepts of such variation and provides an update on recent research on the effects of regulatory variants on the transcriptome, proteome and complex traits, including human disease risk.
- Frank W. Albert
- & Leonid Kruglyak
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Analysis |
The contribution of genetic variants to disease depends on the ruler
There are various measures to quantify the contribution of genetic variants to disease risk, but differing terminology and assumptions obfuscate their use and interpretation. In this Analysis, the authors consider and contrast six commonly used measures that assess disease risk of individual variants, and provide numerical examples in breast cancer, Crohn's disease, rheumatoid arthritis and schizophrenia.
- John S. Witte
- , Peter M. Visscher
- & Naomi R. Wray
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Review Article |
Expanding the computational toolbox for mining cancer genomes
The field of cancer genomics has been transformed by recent advances in sequencing and the development of new computational methods. This Review outlines the available cancer genomics software and describes recent insights gained from the application of these tools.
- Li Ding
- , Michael C. Wendl
- & Benjamin J. Raphael
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Opinion |
The role of de novo mutations in the genetics of autism spectrum disorders
In the past few years, there have been rapid advances in the identification of the genetic components of autism spectrum disorders, particularly in the form ofde novomutations. Here, the authors review these developments in light of genetic models for autism spectrum disorders.
- Michael Ronemus
- , Ivan Iossifov
- & Michael Wigler
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Ethics Watch |
Next-generation sequencing: does the next generation still have a right to an open future?
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.
- Annelien L. Bredenoord
- , Martine C. de Vries
- & Johannes J. M. van Delden
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Opinion |
Disease-targeted sequencing: a cornerstone in the clinic
Clinical sequencing tests that focus on genes linked to specific diseases or phenotypes are increasingly widely being used. This article discusses how disease-targeting tests retain several advantages despite moves towards the clinical application of whole-genome or exome sequencing.
- Heidi L. Rehm
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Review Article |
The heritability of human disease: estimation, uses and abuses
Heritability estimates provide a useful means of understanding the genetic and environmental contributions to phenotypic variance. The authors define heritability, discuss how to estimate and interpret it in the context of disease and examine how biases in heritability estimates arise.
- Albert Tenesa
- & Chris S. Haley
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Reply |
Reply to 'Mining electronic health records: an additional perspective'
- Peter B. Jensen
- , Lars J. Jensen
- & Søren Brunak
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Correspondence |
Mining electronic health records: an additional perspective
- John F. Hurdle
- , Ken R. Smith
- & Geraldine P. Mineau