Featured
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Review Article |
Cancer transcriptome profiling at the juncture of clinical translation
Although cancer genome sequencing is becoming routine in cancer research, cancer transcriptome profiling through methods such as RNA sequencing (RNA-seq) provides information not only on mutations but also on their functional cellular consequences. This Review discusses how technical and analytical advances in cancer transcriptomics have provided various clinically valuable insights into gene expression signatures, driver gene prioritization, cancer microenvironments, immuno-oncology and prognostic biomarkers.
- Marcin Cieślik
- & Arul M. Chinnaiyan
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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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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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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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Review Article |
The continuing value of twin studies in the omics era
Twin studies have long been used for dissecting the relative contributions of genetics and other factors to various phenotypes. This Review discusses how these traditional studies are now being integrated with modern omics technologies to provide a wide range of biological insights.
- Jenny van Dongen
- , P. Eline Slagboom
- & Dorret I. Boomsma
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Viewpoint |
The place of genetics in ageing research
Is ageing in our genes? In this Viewpoint, six experts present their views on the extent to which ageing is genetic and discuss future strategies for research into ageing and longevity.
- Nir Barzilai
- , Leonard Guarente
- & P. Eline Slagboom
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Science and Society |
From patients to partners: participant-centric initiatives in biomedical research
Participant-centred initiatives use social media technologies to allow long-term interactive partnerships to be established between study participants and researchers. These varied initiatives improve research governance and quality and give participants greater knowledge of and control over how their data are used.
- Jane Kaye
- , Liam Curren
- & Stefan F. Winter
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Correspondence |
Response to 'Gene-by-environment experiments: a new approach to finding the missing heritability' by van IJzendoorn et al.
- Duncan Thomas
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Comment |
Connecting the public with biobank research: reciprocity matters
- Herbert Gottweis
- , George Gaskell
- & Johannes Starkbaum
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Review Article |
Haplotype phasing: existing methods and new developments
The authors review the experimental and computational approaches for determining haplotype phase, focusing on statistical methods, the factors that influence the strategy used and the value of using information on identity-by-descent.
- Sharon R. Browning
- & Brian L. Browning
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From The Editors |
From the editors
Highlights from the world of stem cells in a special Focus issue.
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An Interview With... |
Shinya Yamanaka
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Comment |
Accelerate medical breakthroughs by ending disease earmarks
A shift towards studying connections between diseases will be essential to accelerate the translation of biomedical research.
- Sharon F. Terry
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DNA methylation-based biomarkers and the epigenetic clock theory of ageing
From non-coding risk variant to biological mechanism in CAD
Combination screens for combination therapies
When two halves are better than one whole
Many roads lead to commitment
The dangers lurking in the genetic background
Huge boost for genetics of cognitive disorders
Taking DNA from the dead