Series |

Translational genetics

The application of genetic knowledge to benefit human health has never looked more promising. Next-generation sequencing technologies are helping to reveal the links between genomic variants and simple and complex traits; stem cells are being harnessed for use in regenerative medicine; and some gene-based therapies achieving clinical success.

The articles in this series document the many ways in which genetic knowledge is changing medical practice, by facilitating screening tests, by informing diagnoses and drug prescribing and, perhaps before long, by routinely offering personalized health-risk assessments and tailored treatments.


  • Nature Reviews Genetics | Review Article

    Polygenic risk profiling can lead to actionable outcomes for individuals at high risk of developing a subset of common adult-onset polygenic diseases. The authors review recent studies that have demonstrated the utility of polygenic risk scores for disease risk stratification and their potential impact on early disease detection, prevention, therapeutic intervention and life planning.

    • Ali Torkamani
    • , Nathan E. Wineinger
    •  &  Eric J. Topol
  • Nature Reviews Genetics | Review Article

    Recent studies show that structural variation can alter the genome architecture, leading to changes in the regulation of gene expression that cause disease. The authors review the role of genetic structural variation in disease and the pathogenic potential of changes to the 3D genome.

    • Malte Spielmann
    • , Darío G. Lupiáñez
    •  &  Stefan Mundlos
  • Nature Reviews Genetics | Review Article

    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.

    • Caroline F. Wright
    • , David R. FitzPatrick
    •  &  Helen V. Firth
  • Nature Reviews Genetics | Science and Society

    Including diverse populations in genomic studies has the potential to improve the use of genomic data in the clinic. Here, members of the National Human Genome Research Institute review the benefits of increasing diversity, the challenges to overcome and key recommendations for how to achieve this goal.

    • Lucia A. Hindorff
    • , Vence L. Bonham
    • , Lawrence C. Brody
    • , Margaret E. C. Ginoza
    • , Carolyn M. Hutter
    • , Teri A. Manolio
    •  &  Eric D. Green
  • Nature Reviews Genetics | Review Article

    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
    • , Daniel Moreno-De-Luca
    • , Richard J. L. Anney
    • , John I. Nurnberger Jr
    •  &  Joachim F. Hallmayer
  • Nature Reviews Genetics | Review Article

    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